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Search result for `microgen-4h-syndrome-gene-panel`

MicroGen 4H syndrome gene panel

MHL Testcode : GG40
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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POLR3A ✓
POLR3B ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen ABCD1 gene analysis

MHL Testcode : GG41
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ABCD1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen ADGRG1 gene sequencing

MHL Testcode : GG42
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ADGRG1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Adrenoleukodystrophy , gene analysis

MHL Testcode : GG43
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ABCD1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen ADSSL1 gene analysis

MHL Testcode : GG44
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ADSSL1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Aicardi-Goutieres syndrome gene panel

MHL Testcode : GG45
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ADAR ✓
IFIH1 ✓
RNASEH2A ✓
RNASEH2B ✓
RNASEH2C ✓
SAMHD1 ✓
TREX1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Alexander disease , gene analysis

MHL Testcode : GG46
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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GFAP ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Alkaptonuria , gene analysis

MHL Testcode : GG47
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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HGD ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Amyotrophic Lateral Sclerosis gene panel

MHL Testcode : GG48
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ANG ✓
ANXA11 ✓
APOE ✓
ARHGEF28 ✓
ATXN2 ✓
C9orf72 ✓
CFAP410 ✓
CHCHD10 ✓
CHMP2B ✓
DCTN1 ✓
ERBB4 ✓
FIG4 ✓
FUS ✓
HNRNPA1 ✓
HNRNPA2B1 ✓
KIF5A ✓
MATR3 ✓
MOBP ✓
NEFH ✓
NEK1 ✓
OPTN ✓
PFN1 ✓
SETX ✓
SOD1 ✓
SQSTM1 ✓
TAF15 ✓
TARDBP ✓
TBK1 ✓
TUBA4A ✓
UBQLN2 ✓
UNC13A ✓
VAPB ✓
VCP ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Arthrogryposis and congenital myasthenic syndrome gene panel

MHL Testcode : GG49
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ADCY6 ✓
ADGRG6 ✓
AGRN ✓
ALG14 ✓
ALG2 ✓
CHAT ✓
CHRNA1 ✓
CHRNB1 ✓
CHRND ✓
CHRNE ✓
CHRNG ✓
CHST14 ✓
CNTNAP1 ✓
COL13A1 ✓
COLQ ✓
DNM2 ✓
DOK7 ✓
DPAGT1 ✓
ECEL1 ✓
ERBB3 ✓
FBN2 ✓
GFPT1 ✓
GLE1 ✓
LAMB2 ✓
LRP4 ✓
MUSK ✓
MYBPC1 ✓
MYH3 ✓
MYH8 ✓
NALCN ✓
PI4KA ✓
PIEZO2 ✓
PIP5K1C ✓
RAPSN ✓
SCN4A ✓
SLC18A3 ✓
SLC35A3 ✓
SNAP25 ✓
SYT2 ✓
TNNI2 ✓
TNNT3 ✓
TPM2 ✓
UBA1 ✓
VIPAS39 ✓
VPS33B ✓
ZBTB42 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Ataxia-telangiectasia , deletion and duplication analysis

MHL Testcode : GG50
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

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ATM ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Ataxia-telangiectasia , gene analysis

MHL Testcode : GG51
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ATM ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen ATP1A2 and ATP1A3 gene sequencing

MHL Testcode : GG52
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ATP1A2 and ATP1A3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen ATRX gene analysis

MHL Testcode : GG53
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ATRX ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Autism Spectrum Disorders gene panel ,

MHL Testcode : GG54
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ACTB ✓
ADNP ✓
ADSL ✓
AHDC1 ✓
ALDH5A1 ✓
ANK2 ✓
ANK3 ✓
ANKRD11 ✓
ARHGEF9 ✓
ARID1B ✓
ARX ✓
ASH1L ✓
ASXL3 ✓
AUTS2 ✓
BAZ2B ✓
BCKDK ✓
BCL11A ✓
BRAF ✓
BRSK2 ✓
C12orf57 ✓
CACNA1C ✓
CACNA2D3 ✓
CASK ✓
CC2D1A ✓
CDC42BPB ✓
CDKL5 ✓
CHAMP1 ✓
CHD2 ✓
CHD3 ✓
CHD7 ✓
CHD8 ✓
CIC ✓
CNOT3 ✓
CNTN6 ✓
CNTNAP2 ✓
CREBBP ✓
CSDE1 ✓
CTCF ✓
CTNND2 ✓
CTTNBP2 ✓
CUL3 ✓
DDX3X ✓
DEAF1 ✓
DHCR7 ✓
DISC1 ✓
DLG4 ✓
DNMT3A ✓
DSCAM ✓
DYRK1A ✓
EBF3 ✓
EFR3A ✓
EHMT1 ✓
EP300 ✓
FMR1 ✓
FOXG1 ✓
FOXP1 ✓
FOXP2 ✓
GABRB3 ✓
GAMT ✓
GATM ✓
GIGYF1 ✓
GRIN2B ✓
GRIP1 ✓
HCN1 ✓
HIVEP2 ✓
HNRNPH2 ✓
HNRNPU ✓
HRAS ✓
IQSEC2 ✓
IRF2BPL ✓
KANSL1 ✓
KATNAL2 ✓
KCNB1 ✓
KCNQ3 ✓
KDM3B ✓
KDM5B ✓
KDM6B ✓
KMT2A ✓
KMT2C ✓
KMT2E ✓
KMT5B ✓
KRAS ✓
MAGEL2 ✓
MAOA ✓
MBD5 ✓
MBOAT7 ✓
MECP2 ✓
MED13 ✓
MED13L ✓
MEIS2 ✓
MYT1L ✓
NAA15 ✓
NACC1 ✓
NBEA ✓
NDP ✓
NEXMIF ✓
NFIX ✓
NLGN3 ✓
NLGN4X ✓
NR4A2 ✓
NRXN1 ✓
NRXN3 ✓
NSD1 ✓
PACS1 ✓
PCDH19 ✓
PHF21A ✓
PHF3 ✓
POGZ ✓
POMGNT1 ✓
PPP1CB ✓
PPP2R5D ✓
PQBP1 ✓
PRR12 ✓
PSMD12 ✓
PTCHD1 ✓
PTEN ✓
PTPN11 ✓
RAB39B ✓
RAD21 ✓
RAF1 ✓
RAI1 ✓
RELN ✓
RERE ✓
RFX3 ✓
SCN1A ✓
SCN2A ✓
SCN8A ✓
SETBP1 ✓
SETD2 ✓
SETD5 ✓
SGSH ✓
SHANK2 ✓
SHANK3 ✓
SIN3A ✓
SLC6A1 ✓
SLC9A6 ✓
SMAD4 ✓
SMARCC2 ✓
SON ✓
SOX5 ✓
SPAST ✓
STXBP1 ✓
STXBP5 ✓
SYNGAP1 ✓
TANC2 ✓
TAOK1 ✓
TBC1D20 ✓
TBCK ✓
TBL1XR1 ✓
TBR1 ✓
TCF20 ✓
TCF4 ✓
TLK2 ✓
TNRC6B ✓
TRAF7 ✓
TRIO ✓
TRIP12 ✓
TSC1 ✓
TSC2 ✓
TSHZ3 ✓
UBE3A ✓
UPF3B ✓
VPS13B ✓
WAC ✓
WDFY3 ✓
ZBTB20 ✓
ZMYND11 ✓
ZNF292 ✓
ZNF407 ✓
ZNF462 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Autosomal dominant adult-onset demyelinating leukodystrophy , deletion and duplication analysis

MHL Testcode : GG55
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

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LMNB1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Benign infantile epilepsy gene panel

MHL Testcode : GG56
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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CHRNA2 ✓
KCNQ2 ✓
KCNQ3 ✓
PRRT2 ✓
SCN2A ✓
SCN8A ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Comprehensive Epilepsy gene Panel

MHL Testcode : GG57
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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AARS ✓
AARS2 ✓
ABAT ✓
ABCC8 ✓
ABHD16A ✓
ACOX1 ✓
ACTB ✓
ACTG1 ✓
ACTL6B ✓
ACY1 ✓
ADAM22 ✓
ADAR ✓
ADARB1 ✓
ADAT3 ✓
ADCY5 ✓
ADGRG1 ✓
ADGRL1 ✓
ADGRV1 ✓
ADNP ✓
ADPRHL2 ✓
ADRA2B ✓
ADSL ✓
AFDN ✓
AFF3 ✓
AFG3L2 ✓
AGA ✓
AGMO ✓
AGO1 ✓
AHDC1 ✓
AHI1 ✓
AIMP1 ✓
AKT1 ✓
AKT3 ✓
ALDH3A2 ✓
ALDH4A1 ✓
ALDH5A1 ✓
ALDH7A1 ✓
ALG1 ✓
ALG11 ✓
ALG12 ✓
ALG13 ✓
ALG14 ✓
ALG2 ✓
ALG3 ✓
ALG6 ✓
ALG8 ✓
ALG9 ✓
ALKBH8 ✓
ALPL ✓
AMACR ✓
AMPD2 ✓
AMT ✓
ANK3 ✓
ANKRD11 ✓
ANKRD17 ✓
AP1G1 ✓
AP2M1 ✓
AP3B2 ✓
AP3D1 ✓
AP4B1 ✓
AP4M1 ✓
APC2 ✓
ARF1 ✓
ARFGEF1 ✓
ARFGEF2 ✓
ARG1 ✓
ARHGEF15 ✓
ARHGEF9 ✓
ARID1A ✓
ARID1B ✓
ARL13B ✓
ARSA ✓
ARSB ✓
ARV1 ✓
ARX ✓
ASAH1 ✓
ASH1L ✓
ASNS ✓
ASPA ✓
ASPM ✓
ASTN1 ✓
ASXL2 ✓
ASXL3 ✓
ATAD1 ✓
ATIC ✓
ATN1 ✓
ATP13A2 ✓
ATP1A1 ✓
ATP1A2 ✓
ATP1A3 ✓
ATP2A2 ✓
ATP2B1 ✓
ATP5F1A ✓
ATP5F1E ✓
ATP5MC3 ✓
ATP5PO ✓
ATP6AP2 ✓
ATP6V0A1 ✓
ATP6V0A2 ✓
ATP6V0C ✓
ATP6V1A ✓
ATP6V1B2 ✓
ATP7A ✓
ATPAF2 ✓
ATRX ✓
AUH ✓
AUTS2 ✓
B3GALNT2 ✓
B4GALT1 ✓
B4GAT1 ✓
BAP1 ✓
BCAS3 ✓
BCKDHA ✓
BCKDHB ✓
BCKDK ✓
BCL11A ✓
BCS1L ✓
BICD2 ✓
BOLA3 ✓
BPTF ✓
BRAF ✓
BRAT1 ✓
BRD2 ✓
BSCL2 ✓
BTD ✓
BUB1B ✓
C12orf57 ✓
C19orf12 ✓
C2orf69 ✓
CACNA1A ✓
CACNA1B ✓
CACNA1C ✓
CACNA1D ✓
CACNA1E ✓
CACNA1G ✓
CACNA1H ✓
CACNA1I ✓
CACNA2D1 ✓
CACNA2D2 ✓
CACNB4 ✓
CAD ✓
CAMK2A ✓
CAMK2B ✓
CAMSAP1 ✓
CAMTA1 ✓
CAPRIN1 ✓
CARS2 ✓
CASK ✓
CASR ✓
CBL ✓
CC2D2A ✓
CCDC186 ✓
CCDC22 ✓
CCDC88A ✓
CCDC88C ✓
CCL2 ✓
CCM2 ✓
CCND2 ✓
CDC42BPB ✓
CDK13 ✓
CDK19 ✓
CDK5 ✓
CDKL5 ✓
CELF2 ✓
CENPF ✓
CENPJ ✓
CEP290 ✓
CEP85L ✓
CERS1 ✓
CHD1 ✓
CHD2 ✓
CHD3 ✓
CHD4 ✓
CHD5 ✓
CHKA ✓
CHRNA2 ✓
CHRNA4 ✓
CHRNB2 ✓
CLCN2 ✓
CLCN3 ✓
CLCN4 ✓
CLDN5 ✓
CLN3 ✓
CLN5 ✓
CLN6 ✓
CLN8 ✓
CLPB ✓
CLTC ✓
CNKSR2 ✓
CNNM2 ✓
CNOT9 ✓
CNPY3 ✓
CNTN2 ✓
CNTNAP1 ✓
CNTNAP2 ✓
COG4 ✓
COG6 ✓
COG7 ✓
COG8 ✓
COL18A1 ✓
COL3A1 ✓
COL4A1 ✓
COL4A2 ✓
COL4A3BP ✓
COQ2 ✓
COQ4 ✓
COQ6 ✓
COQ8A ✓
COQ9 ✓
COX10 ✓
COX15 ✓
CP ✓
CPA6 ✓
CPLX1 ✓
CPSF3 ✓
CPT2 ✓
CRADD ✓
CREBBP ✓
CRH ✓
CSF1R ✓
CSNK1E ✓
CSNK2A1 ✓
CSNK2B ✓
CSTA ✓
CSTB ✓
CTNNA2 ✓
CTSA ✓
CTSD ✓
CTSF ✓
CTU2 ✓
CUL3 ✓
CUL4B ✓
CUX2 ✓
CWF19L1 ✓
CXorf56 ✓
CYFIP2 ✓
CYP27A1 ✓
D2HGDH ✓
DAG1 ✓
DBT ✓
DCHS1 ✓
DCX ✓
DDC ✓
DDX3X ✓
DEAF1 ✓
DEGS1 ✓
DENND5A ✓
DEPDC5 ✓
DHCR24 ✓
DHCR7 ✓
DHDDS ✓
DHFR ✓
DHPS ✓
DHX16 ✓
DHX30 ✓
DHX9 ✓
DIAPH1 ✓
DLD ✓
DLG4 ✓
DLL1 ✓
DMRTA2 ✓
DMXL2 ✓
DNAH14 ✓
DNAJC5 ✓
DNAJC6 ✓
DNM1 ✓
DNM1L ✓
DOCK7 ✓
DOHH ✓
DOLK ✓
DPAGT1 ✓
DPM1 ✓
DPM2 ✓
DPM3 ✓
DPYD ✓
DROSHA ✓
DYNC1H1 ✓
DYNC2H1 ✓
DYRK1A ✓
EARS2 ✓
ECHS1 ✓
ECM1 ✓
EED ✓
EEF1A2 ✓
EEF1B2 ✓
EFHC1 ✓
EFTUD2 ✓
EHMT1 ✓
EIF2AK2 ✓
EIF2B1 ✓
EIF2B2 ✓
EIF2B3 ✓
EIF2B4 ✓
EIF2B5 ✓
EIF2S3 ✓
EIF3F ✓
EIF4A2 ✓
ELOVL4 ✓
EMC1 ✓
EMC10 ✓
EML1 ✓
EMX2 ✓
EOMES ✓
EPG5 ✓
EPM2A ✓
ERMARD ✓
ESAM ✓
ETFDH ✓
ETHE1 ✓
EXOC7 ✓
EXOSC3 ✓
EXT2 ✓
FA2H ✓
FAR1 ✓
FARS2 ✓
FASN ✓
FASTKD2 ✓
FBXL4 ✓
FBXO11 ✓
FBXO28 ✓
FDFT1 ✓
FGD1 ✓
FGF12 ✓
FGF13 ✓
FGFR3 ✓
FH ✓
FIG4 ✓
FKRP ✓
FKTN ✓
FLNA ✓
FOLR1 ✓
FOXG1 ✓
FOXP1 ✓
FOXRED1 ✓
FRA10AC1 ✓
FRMD5 ✓
FRRS1L ✓
FUCA1 ✓
FUK ✓
FUT8 ✓
FZR1 ✓
GABBR2 ✓
GABRA1 ✓
GABRA2 ✓
GABRA3 ✓
GABRA4 ✓
GABRA5 ✓
GABRB1 ✓
GABRB2 ✓
GABRB3 ✓
GABRD ✓
GABRG2 ✓
GAD1 ✓
GALC ✓
GALNT2 ✓
GAMT ✓
GATAD2B ✓
GATM ✓
GBA ✓
GCDH ✓
GCH1 ✓
GCSH ✓
GFAP ✓
GFM1 ✓
GLB1 ✓
GLDC ✓
GLI2 ✓
GLI3 ✓
GLRA1 ✓
GLRB ✓
GLS ✓
GLUD1 ✓
GLUL ✓
GLYCTK ✓
GM2A ✓
GMPPA ✓
GMPPB ✓
GNAI1 ✓
GNAO1 ✓
GNB1 ✓
GNB5 ✓
GNE ✓
GNS ✓
GOSR2 ✓
GOT2 ✓
GPAA1 ✓
GPC3 ✓
GPHN ✓
GPSM2 ✓
GPT2 ✓
GRIA1 ✓
GRIA2 ✓
GRIA3 ✓
GRIA4 ✓
GRIK2 ✓
GRIN1 ✓
GRIN2A ✓
GRIN2B ✓
GRIN2D ✓
GRM7 ✓
GRN ✓
GSS ✓
GTPBP2 ✓
GTPBP3 ✓
H3F3A ✓
H3F3B ✓
HACE1 ✓
HAX1 ✓
HCCS ✓
HCFC1 ✓
HCN1 ✓
HCN2 ✓
HCN4 ✓
HDAC4 ✓
HDAC8 ✓
HECW2 ✓
HEPACAM ✓
HEXA ✓
HEXB ✓
HGSNAT ✓
HID1 ✓
HIVEP2 ✓
HLCS ✓
HMGCL ✓
HNRNPH2 ✓
HNRNPK ✓
HNRNPR ✓
HNRNPU ✓
HOXA1 ✓
HPD ✓
HPDL ✓
HPRT1 ✓
HRAS ✓
HSD17B10 ✓
HSD17B4 ✓
HSPD1 ✓
HTRA2 ✓
HTT ✓
IARS2 ✓
IBA57 ✓
IDH2 ✓
IDS ✓
IER3IP1 ✓
IFIH1 ✓
INTS8 ✓
IQSEC2 ✓
IRF2BPL ✓
ISPD ✓
ITGB4 ✓
ITPA ✓
JARID2 ✓
JMJD1C ✓
KANSL1 ✓
KARS ✓
KAT5 ✓
KAT6A ✓
KAT8 ✓
KATNB1 ✓
KCNA1 ✓
KCNA2 ✓
KCNA6 ✓
KCNAB2 ✓
KCNB1 ✓
KCNC1 ✓
KCNC2 ✓
KCND2 ✓
KCND3 ✓
KCNH1 ✓
KCNH2 ✓
KCNH5 ✓
KCNJ10 ✓
KCNJ11 ✓
KCNK4 ✓
KCNMA1 ✓
KCNN2 ✓
KCNQ2 ✓
KCNQ3 ✓
KCNQ5 ✓
KCNT1 ✓
KCNT2 ✓
KCNV2 ✓
KCTD3 ✓
KCTD7 ✓
KDM2B ✓
KDM4B ✓
KDM5A ✓
KDM5C ✓
KDM6A ✓
KIAA1109 ✓
KIF1A ✓
KIF1BP ✓
KIF2A ✓
KIF5A ✓
KIF5B ✓
KIF5C ✓
KLHL20 ✓
KMT2A ✓
KMT2B ✓
KMT2D ✓
KMT2E ✓
KMT5B ✓
KPNA7 ✓
KPTN ✓
KRAS ✓
KRIT1 ✓
L2HGDH ✓
LAMA2 ✓
LAMC3 ✓
LARGE1 ✓
LARS ✓
LBR ✓
LGI1 ✓
LIAS ✓
LIG3 ✓
LIPT2 ✓
LMBRD2 ✓
LMNB2 ✓
LMX1B ✓
LNPK ✓
LRBA ✓
LRPPRC ✓
LSS ✓
LYST ✓
MACF1 ✓
MADD ✓
MAF ✓
MANBA ✓
MAP1B ✓
MAP2K1 ✓
MAP2K2 ✓
MAPK10 ✓
MARCH6 ✓
MAST1 ✓
MAST3 ✓
MAST4 ✓
MBD5 ✓
MBOAT7 ✓
MCM3AP ✓
MCOLN1 ✓
MCPH1 ✓
MDH1 ✓
MDH2 ✓
ME2 ✓
MECP2 ✓
MED11 ✓
MED12 ✓
MED13L ✓
MED17 ✓
MED23 ✓
MED27 ✓
MEF2C ✓
MFF ✓
MFSD8 ✓
MGAT2 ✓
MINPP1 ✓
MLC1 ✓
MMACHC ✓
MMADHC ✓
MOCS1 ✓
MOCS2 ✓
MOGS ✓
MPDU1 ✓
MTHFR ✓
MTHFS ✓
MTOR ✓
MTR ✓
MYCBP2 ✓
MYT1L ✓
NAA10 ✓
NAA15 ✓
NACC1 ✓
NAGLU ✓
NALCN ✓
NAPB ✓
NARS ✓
NARS2 ✓
NAXE ✓
NBEA ✓
NCDN ✓
NDE1 ✓
NDP ✓
NDST1 ✓
NDUFA1 ✓
NDUFA10 ✓
NDUFA11 ✓
NDUFA2 ✓
NDUFA6 ✓
NDUFAF2 ✓
NDUFAF3 ✓
NDUFAF4 ✓
NDUFAF5 ✓
NDUFS1 ✓
NDUFS2 ✓
NDUFS3 ✓
NDUFS4 ✓
NDUFS6 ✓
NDUFS7 ✓
NDUFS8 ✓
NDUFV1 ✓
NECAP1 ✓
NEDD4L ✓
NEU1 ✓
NEUROD2 ✓
NEXMIF ✓
NF1 ✓
NGLY1 ✓
NHLRC1 ✓
NHLRC2 ✓
NIPBL ✓
NOTCH3 ✓
NOVA2 ✓
NPC1 ✓
NPC2 ✓
NPHP1 ✓
NPRL2 ✓
NPRL3 ✓
NR2F1 ✓
NR4A2 ✓
NRAS ✓
NRROS ✓
NRXN1 ✓
NSD1 ✓
NSDHL ✓
NSRP1 ✓
NTNG1 ✓
NTRK2 ✓
NUBPL ✓
NUP214 ✓
NUS1 ✓
OCLN ✓
OCRL ✓
OFD1 ✓
OGDHL ✓
OPHN1 ✓
OSGEP ✓
OTUD5 ✓
OTUD6B ✓
OTX2 ✓
OXR1 ✓
P4HTM ✓
PACS1 ✓
PACS2 ✓
PAFAH1B1 ✓
PAH ✓
PAK1 ✓
PAK2 ✓
PAK3 ✓
PANK2 ✓
PARP6 ✓
PARS2 ✓
PAX6 ✓
PC ✓
PCCA ✓
PCCB ✓
PCDH12 ✓
PCDH19 ✓
PCDHGC4 ✓
PCLO ✓
PCNT ✓
PCYT2 ✓
PDCD10 ✓
PDE2A ✓
PDHA1 ✓
PDHX ✓
PDSS2 ✓
PET100 ✓
PEX1 ✓
PEX10 ✓
PEX12 ✓
PEX13 ✓
PEX14 ✓
PEX19 ✓
PEX2 ✓
PEX26 ✓
PEX3 ✓
PEX5 ✓
PEX6 ✓
PEX7 ✓
PGAP2 ✓
PGAP3 ✓
PGK1 ✓
PHACTR1 ✓
PHF21A ✓
PHF6 ✓
PHGDH ✓
PI4K2A ✓
PIDD1 ✓
PIGA ✓
PIGB ✓
PIGC ✓
PIGF ✓
PIGG ✓
PIGH ✓
PIGK ✓
PIGL ✓
PIGM ✓
PIGN ✓
PIGO ✓
PIGP ✓
PIGQ ✓
PIGS ✓
PIGT ✓
PIGU ✓
PIGV ✓
PIGW ✓
PIK3C2B ✓
PIK3CA ✓
PIK3R2 ✓
PINK1 ✓
PIP5K1C ✓
PLA2G6 ✓
PLAA ✓
PLCB1 ✓
PLK1 ✓
PLP1 ✓
PLPBP ✓
PLXNA1 ✓
PLXNC1 ✓
PMM2 ✓
PMPCB ✓
PNKP ✓
PNPLA8 ✓
PNPO ✓
PNPT1 ✓
POGZ ✓
POLG ✓
POLG2 ✓
POLR1A ✓
POLR3B ✓
POMGNT1 ✓
POMGNT2 ✓
POMK ✓
POMT1 ✓
POMT2 ✓
POU3F3 ✓
PPFIBP1 ✓
PPIL1 ✓
PPP2CA ✓
PPP2R1A ✓
PPP2R5D ✓
PPP3CA ✓
PPT1 ✓
PQBP1 ✓
PRDM8 ✓
PRICKLE1 ✓
PRICKLE2 ✓
PRIMA1 ✓
PRMT7 ✓
PRNP ✓
PRODH ✓
PRPF8 ✓
PRRT2 ✓
PRUNE1 ✓
PSAP ✓
PSAT1 ✓
PSPH ✓
PTBP1 ✓
PTCH1 ✓
PTEN ✓
PTF1A ✓
PTPN11 ✓
PTPN23 ✓
PTS ✓
PUF60 ✓
PUM1 ✓
PURA ✓
PUS3 ✓
QARS ✓
QDPR ✓
RAB11A ✓
RAB11B ✓
RAB18 ✓
RAB39B ✓
RAB3GAP1 ✓
RAB3GAP2 ✓
RAB5C ✓
RABGAP1 ✓
RAC3 ✓
RAI1 ✓
RALA ✓
RALGAPA1 ✓
RAPGEF2 ✓
RARS2 ✓
RBFOX1 ✓
RBFOX3 ✓
RELN ✓
RERE ✓
RFT1 ✓
RHOBTB2 ✓
RMND1 ✓
RNASEH2A ✓
RNASEH2B ✓
RNASEH2C ✓
RNASET2 ✓
RNF113A ✓
RNF13 ✓
RNU4ATAC ✓
ROGDI ✓
RORA ✓
RORB ✓
RPGRIP1L ✓
RPH3A ✓
RPIA ✓
RPS6KA3 ✓
RRM2B ✓
RTN4IP1 ✓
RTTN ✓
RUSC2 ✓
RXYLT1 ✓
RYR3 ✓
SACS ✓
SAMD12 ✓
SAMHD1 ✓
SATB1 ✓
SATB2 ✓
SCAF4 ✓
SCAMP5 ✓
SCARB2 ✓
SCN10A ✓
SCN1A ✓
SCN1B ✓
SCN2A ✓
SCN3A ✓
SCN4A ✓
SCN5A ✓
SCN8A ✓
SCN9A ✓
SCO1 ✓
SCO2 ✓
SDHA ✓
SEMA6B ✓
SEPSECS ✓
SERAC1 ✓
SERPINI1 ✓
SETBP1 ✓
SETD1A ✓
SETD1B ✓
SETD5 ✓
SGSH ✓
SHANK3 ✓
SHH ✓
SHOC2 ✓
SIK1 ✓
SIX3 ✓
SLC12A5 ✓
SLC13A5 ✓
SLC16A2 ✓
SLC17A5 ✓
SLC19A3 ✓
SLC1A2 ✓
SLC1A3 ✓
SLC1A4 ✓
SLC22A5 ✓
SLC25A1 ✓
SLC25A12 ✓
SLC25A15 ✓
SLC25A19 ✓
SLC25A22 ✓
SLC2A1 ✓
SLC32A1 ✓
SLC35A1 ✓
SLC35A2 ✓
SLC35A3 ✓
SLC35C1 ✓
SLC38A3 ✓
SLC39A8 ✓
SLC45A1 ✓
SLC46A1 ✓
SLC4A10 ✓
SLC5A6 ✓
SLC6A1 ✓
SLC6A8 ✓
SLC7A6OS ✓
SLC9A6 ✓
SMARCA2 ✓
SMARCA4 ✓
SMARCB1 ✓
SMARCC2 ✓
SMARCE1 ✓
SMC1A ✓
SMC3 ✓
SMS ✓
SNAP25 ✓
SNAP29 ✓
SNIP1 ✓
SNX27 ✓
SON ✓
SOX11 ✓
SOX2 ✓
SPATA5 ✓
SPATA5L1 ✓
SPR ✓
SPRED1 ✓
SPTAN1 ✓
SPTBN1 ✓
SPTBN4 ✓
SRCAP ✓
SRGAP2 ✓
ST3GAL3 ✓
ST3GAL5 ✓
STAG1 ✓
STAMBP ✓
STARD7 ✓
STIL ✓
STRADA ✓
STX1A ✓
STX1B ✓
STXBP1 ✓
SUCLA2 ✓
SUCLG1 ✓
SUMF1 ✓
SUOX ✓
SURF1 ✓
SYN1 ✓
SYNE1 ✓
SYNGAP1 ✓
SYNJ1 ✓
SYP ✓
SZT2 ✓
TACO1 ✓
TAF1C ✓
TAF8 ✓
TANC2 ✓
TANGO2 ✓
TAOK1 ✓
TARS2 ✓
TBC1D20 ✓
TBC1D24 ✓
TBC1D2B ✓
TBC1D7 ✓
TBCD ✓
TBCK ✓
TBL1XR1 ✓
TBX1 ✓
TBX19 ✓
TCEAL1 ✓
TCF4 ✓
TDP2 ✓
TELO2 ✓
TET3 ✓
TFE3 ✓
TGIF1 ✓
THG1L ✓
THOC2 ✓
TIAM1 ✓
TIMM50 ✓
TK2 ✓
TLK2 ✓
TMEM106B ✓
TMEM222 ✓
TMEM63B ✓
TMEM67 ✓
TMEM70 ✓
TMTC3 ✓
TMX2 ✓
TNK2 ✓
TNPO2 ✓
TNRC6A ✓
TPK1 ✓
TPP1 ✓
TRA2B ✓
TRAF7 ✓
TRAK1 ✓
TRAPPC10 ✓
TRAPPC11 ✓
TRAPPC12 ✓
TRAPPC4 ✓
TRAPPC6B ✓
TREM2 ✓
TREX1 ✓
TRIM8 ✓
TRIO ✓
TRIP12 ✓
TRIT1 ✓
TRMT1 ✓
TRMT10A ✓
TRPM3 ✓
TRPM6 ✓
TRRAP ✓
TSC1 ✓
TSC2 ✓
TSEN15 ✓
TSEN2 ✓
TSEN34 ✓
TSEN54 ✓
TSFM ✓
TSPYL1 ✓
TTC5 ✓
TUBA1A ✓
TUBA8 ✓
TUBB ✓
TUBB2A ✓
TUBB2B ✓
TUBB3 ✓
TUBB4A ✓
TUBG1 ✓
TUBGCP2 ✓
TUBGCP6 ✓
TWNK ✓
U2AF2 ✓
UBA5 ✓
UBAP2L ✓
UBE2A ✓
UBE3A ✓
UBR7 ✓
UBTF ✓
UFM1 ✓
UFSP2 ✓
UGDH ✓
UGGT1 ✓
UGP2 ✓
UMPS ✓
UNC79 ✓
UNC80 ✓
USP18 ✓
VAMP2 ✓
VARS ✓
VARS2 ✓
VLDLR ✓
VPS11 ✓
VPS13A ✓
VPS13B ✓
VPS13D ✓
VPS4A ✓
WAC ✓
WARS2 ✓
WASF1 ✓
WASHC4 ✓
WDFY3 ✓
WDR26 ✓
WDR37 ✓
WDR45 ✓
WDR45B ✓
WDR5 ✓
WDR62 ✓
WDR73 ✓
WNK3 ✓
WWOX ✓
XPR1 ✓
YEATS2 ✓
YIF1B ✓
YIPF5 ✓
YWHAE ✓
YWHAG ✓
ZBTB18 ✓
ZDHHC9 ✓
ZEB2 ✓
ZIC2 ✓
ZMIZ1 ✓
ZMYND11 ✓
ZMYND8 ✓
ZNF142 ✓
ZNF148 ✓
ZNF335 ✓
ZNF526 ✓
ZNHIT3 ✓
ZSWIM6 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Brown Vialetto-Van Laere syndrome gene panel

MHL Testcode : GG58
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

SLC52A2 & SLC52A3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Calpainopathy and LGMD2A , deletion and duplication analysis

MHL Testcode : GG59
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

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×

CAPN3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Canavan disease , gene analysis

MHL Testcode : GG60
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ASPA ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen CAPN3 gene sequencing

MHL Testcode : GG61
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

CAPN3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Cerebral Cavernous Malformation gene Panel

MHL Testcode : GG62
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

CCM2 ✓
KRIT1 ✓
PDCD10 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Charcot-Marie-Tooth 1A and HNPP , deletion and duplication analysis

MHL Testcode : GG63
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

PMP22 ✓
COX10 ✓
TEKT3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Charcot-Marie-Tooth and sensory neuropathies gene panel

MHL Testcode : GG64
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

AARS ✓
AIFM1 ✓
ATL1 ✓
ATL3 ✓
CCT5 ✓
COX6A1 ✓
CTDP1 ✓
DHTKD1 ✓
DNAJB2 ✓
DNM2 ✓
DNMT1 ✓
DST ✓
DYNC1H1 ✓
EGR2 ✓
FAM134B ✓
FGD4 ✓
FIG4 ✓
GAN ✓
GARS ✓
GDAP1 ✓
GJB1 ✓
GNB4 ✓
HARS ✓
HINT1 ✓
HK1 ✓
HOXD10 ✓
HSPB1 ✓
HSPB8 ✓
IGHMBP2 ✓
INF2 ✓
JPH1 ✓
KARS ✓
KIF1A ✓
KIF1B ✓
KIF5A ✓
LITAF ✓
LMNA ✓
LRSAM1 ✓
MARS ✓
MED25 ✓
MFN2 ✓
MME ✓
MORC2 ✓
MPZ ✓
MTMR2 ✓
NAGLU ✓
NDRG1 ✓
NEFH ✓
NEFL ✓
NGF ✓
NTRK1 ✓
PDK3 ✓
PLEKHG5 ✓
PMP22 ✓
PRDM12 ✓
PRPS1 ✓
PRX ✓
RAB7A ✓
REEP1 ✓
SBF1 ✓
SBF2 ✓
SCN11A ✓
SCN9A ✓
SH3TC2 ✓
SLC12A6 ✓
SLC25A46 ✓
SOX10 ✓
SPG11 ✓
SPTLC1 ✓
SPTLC2 ✓
SURF1 ✓
TFG ✓
TRIM2 ✓
TRPV4 ✓
TTR ✓
VCP ✓
WNK1 ✓
YARS ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Charcot-Marie-Tooth type 4 , deletion and duplication analysis

MHL Testcode : GG65
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

EGR2 ✓
GDAP1 ✓
NEFL ✓
PRX ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Charcot-Marie-Tooth type 4C , deletion and duplication analysis

MHL Testcode : GG66
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

SH3TC2 ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen CLP1 gene sequencing

MHL Testcode : GG67
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

CLP1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Coenzyme q10 Deficiency gene panel

MHL Testcode : GG68
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

APTX ✓
COQ2 ✓
COQ4 ✓
COQ6 ✓
COQ8A ✓
COQ8B ✓
COQ9 ✓
ETFA ✓
ETFB ✓
ETFDH ✓
PDSS1 ✓
PDSS2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Collagen Type VI-Related Disorders gene panel

MHL Testcode : GG69
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

COL12A1 ✓
COL4A1 ✓
COL4A2 ✓
COL6A1 ✓
COL6A2 ✓
COL6A3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Congenital Muscular Dystrophy , deletion and duplication analysis

MHL Testcode : GG70
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

LAMA2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Comprehensive neurology gene panel

MHL Testcode : GG71
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

1476 Genes ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Congenital Myasthenic Syndromes gene Panel

MHL Testcode : GG72
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

CSTB ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Creatine Metabolism Deficiency gene Panel

MHL Testcode : GG73
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

GATM ✓
GAMT ✓
SLC6A8 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen CSTB gene sequencing

MHL Testcode : GG74
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

CSTB ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Cystic megalencephaly , gene analysis

MHL Testcode : GG75
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

MLC1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Dementia gene Panel

MHL Testcode : GG76
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ABCA7 ✓
APOE ✓
APP ✓
CHMP2B ✓
CSF1R ✓
FUS ✓
GRN ✓
MAPT ✓
PRNP ✓
PSEN1 ✓
PSEN2 ✓
RNF216 ✓
SIGMAR1 ✓
SNCA ✓
SORL1 ✓
TARDBP ✓
TREM2 ✓
TUBA4A ✓
UBE3A ✓
UBQLN2 ✓
VCP ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Dravet syndrome , deletion and duplication analysis

MHL Testcode : GG77
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

SCN1A ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Dravet syndrome , gene analysis

MHL Testcode : GG78
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

SCN1A ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Duchenne Muscular Dystrophy , deletion and duplication analysis

MHL Testcode : GG79
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

DMD ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Duchenne Muscular Dystrophy , gene sequencing

MHL Testcode : GG80
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

DMD ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen DYSF gene sequencing

MHL Testcode : GG81
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

DYSF ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Dysferlinopathy and LGMD2B , deletion and duplication analysis

MHL Testcode : GG82
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

DYSF ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Dystonia gene panel

MHL Testcode : GG83
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ACTB ✓
ADAR ✓
ADCY5 ✓
AFG3L2 ✓
ALDH5A1 ✓
ANO3 ✓
ARSA ✓
ARX ✓
ATP1A3 ✓
ATP6AP2 ✓
ATP7B ✓
AUH ✓
BCAP31 ✓
BCS1L ✓
C10orf2 ✓
C19orf12 ✓
CACNA1A ✓
CACNA1B ✓
CACNA1G ✓
CCDC88C ✓
CDKL5 ✓
CIZ1 ✓
COASY ✓
COL6A3 ✓
COX10 ✓
COX15 ✓
COX20 ✓
CP ✓
DDC ✓
DLAT ✓
DLD ✓
DNAJC13 ✓
DNAJC6 ✓
DRD2 ✓
EEF2 ✓
ELOVL4 ✓
ELOVL5 ✓
FA2H ✓
FBXO7 ✓
FGF14 ✓
FOLR1 ✓
FOXG1 ✓
FTL ✓
FUS ✓
GCDH ✓
GCH1 ✓
GNAL ✓
HEXA ✓
HPCA ✓
HTRA2 ✓
IFIH1 ✓
ITPR1 ✓
KCNC3 ✓
KCND3 ✓
KCNMA1 ✓
KCTD17 ✓
KMT2B ✓
LRPPRC ✓
LRRK2 ✓
MAPT ✓
MECP2 ✓
MR1 ✓
MTTP ✓
NDUFA10 ✓
NDUFA12 ✓
NDUFA2 ✓
NDUFA9 ✓
NDUFAF2 ✓
NDUFAF5 ✓
NDUFAF6 ✓
NDUFS1 ✓
NDUFS3 ✓
NDUFS4 ✓
NDUFS7 ✓
NDUFS8 ✓
NKX2-1 ✓
NPC1 ✓
NPC2 ✓
NUP62 ✓
PAH ✓
PANK2 ✓
PARK2 ✓
PARK7 ✓
PCBD1 ✓
PDHA1 ✓
PDHB ✓
PDHX ✓
PDYN ✓
PINK1 ✓
PLA2G6 ✓
PLP1 ✓
PNKD ✓
POLG ✓
PPP2R2B ✓
PRKAG2 ✓
PRKCG ✓
PRKRA ✓
PRRT2 ✓
PTS ✓
QDPR ✓
RNASEH2A ✓
RNASEH2B ✓
RNASEH2C ✓
SAMHD1 ✓
SCO2 ✓
SERAC1 ✓
SGCE ✓
SLC16A2 ✓
SLC19A3 ✓
SLC2A1 ✓
SLC30A10 ✓
SLC6A19 ✓
SLC6A3 ✓
SMPD1 ✓
SNCA ✓
SPG11 ✓
SPG7 ✓
SPR ✓
SPTBN2 ✓
SUCLA2 ✓
SUCLG1 ✓
SURF1 ✓
SYNJ1 ✓
TACO1 ✓
TAF1 ✓
TGM6 ✓
TH ✓
THAP1 ✓
TIMM8A ✓
TMEM240 ✓
TOR1A ✓
TREX1 ✓
TRPC3 ✓
TTBK2 ✓
TUBB4A ✓
UCHL1 ✓
VPS13A ✓
VPS35 ✓
WDR45 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Dystonia 28 , gene sequencing

MHL Testcode : GG84
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

KMT2B ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Early infantile epileptic encephalopathy-4 , deletion and duplication analysis

MHL Testcode : GG85
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

STXBP1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Early-onset juvenile parkinsonism gene panel

MHL Testcode : GG86
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ATP13A2 ✓
DNAJC6 ✓
FBXO7 ✓
LRRK2 ✓
PARK2 ✓
PARK7 ✓
PINK1 ✓
PLA2G6 ✓
RAB39B ✓
SLC6A3 ✓
SNCA ✓
SYNJ1 ✓
VAC14 ✓
VPS13C ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Emery-Dreifuss Muscular Dystrophy gene Panel

MHL Testcode : GG87
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

EMD ✓
LMNA ✓
SYNE1 ✓
SYNE2 ✓
FHL1 ✓
TMEM43 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Epileptic encephalopathy gene panel

MHL Testcode : GG88
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

AARS ✓
ABAT ✓
ABCC8 ✓
ALDH7A1 ✓
ALG13 ✓
AMT ✓
AP3B2 ✓
ARHGEF9 ✓
ARV1 ✓
ARX ✓
ATP13A2 ✓
ATP7A ✓
CACNA1A ✓
CACNA1H ✓
CACNB4 ✓
CAD ✓
CDKL5 ✓
CHD2 ✓
CHRNA2 ✓
CHRNA4 ✓
CHRNB2 ✓
CLCN2 ✓
CLN3 ✓
CLN5 ✓
CLN6 ✓
CLN8 ✓
CLTC ✓
CNPY3 ✓
CTSD ✓
CTSF ✓
D2HGDH ✓
DENND5A ✓
DHDDS ✓
DNAJC5 ✓
DNM1 ✓
DOCK7 ✓
EEF1A2 ✓
FGF12 ✓
FOXG1 ✓
FRRS1L ✓
GABBR2 ✓
GABRA1 ✓
GABRA2 ✓
GABRA3 ✓
GABRB2 ✓
GABRB3 ✓
GABRD ✓
GABRG2 ✓
GAMT ✓
GLDC ✓
GNAO1 ✓
GRIN2B ✓
GRIN2D ✓
GRN ✓
GUF1 ✓
HCN1 ✓
HNRNPU ✓
HSD17B4 ✓
IDH2 ✓
ITPA ✓
KCNA2 ✓
KCNB1 ✓
KCNJ11 ✓
KCNQ2 ✓
KCNQ3 ✓
KCNT1 ✓
KCTD7 ✓
MBD5 ✓
MDH2 ✓
MECP2 ✓
MFSD8 ✓
MICAL1 ✓
NECAP1 ✓
NTRK2 ✓
NUS1 ✓
PC ✓
PCDH19 ✓
PEX1 ✓
PEX10 ✓
PEX12 ✓
PEX26 ✓
PEX6 ✓
PIGA ✓
PLCB1 ✓
PNKP ✓
PNPO ✓
PPT1 ✓
PTPN23 ✓
RHOBTB2 ✓
SCN1A ✓
SCN1B ✓
SCN2A ✓
SCN3A ✓
SCN8A ✓
SCN9A ✓
SIK1 ✓
SLC12A5 ✓
SLC13A5 ✓
SLC1A2 ✓
SLC25A22 ✓
SLC2A1 ✓
SLC35A2 ✓
SNAP25 ✓
SPTAN1 ✓
ST3GAL3 ✓
STXBP1 ✓
SUOX ✓
SYNJ1 ✓
SZT2 ✓
TBC1D24 ✓
TCF4 ✓
TPP1 ✓
TSC1 ✓
TSC2 ✓
UBA5 ✓
UBE3A ✓
WDR45 ✓
WWOX ✓
ZEB2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Episodic ataxia gene panel

MHL Testcode : GG89
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

CACNA1A ✓
CACNB4 ✓
KCNA1 ✓
SLC1A3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Familial female mental retardation and epilepsy gene panel

MHL Testcode : GG90
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ALDH7A1 ✓
ARX ✓
ATRX ✓
CASK ✓
CDKL5 ✓
CUL4B ✓
FOLR1 ✓
GRIA3 ✓
HSD17B10 ✓
IQSEC2 ✓
KCNQ2 ✓
KCNQ3 ✓
KDM5C ✓
MECP2 ✓
MED12 ✓
MEF2C ✓
OPHN1 ✓
PCDH19 ✓
PGK1 ✓
PHF6 ✓
PNPO ✓
POLG ✓
SCN1A ✓
SCN1B ✓
SCN2A ✓
SCN8A ✓
SLC2A1 ✓
SLC9A6 ✓
SPTAN1 ✓
STXBP1 ✓
UBE2A ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Familial hemiplegic migraine gene panel

MHL Testcode : GG91
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ATP1A2 ✓
CACNA1A ✓
PRRT2 ✓
SCN1A ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Familial temporal lobe epilepsy-1 , gene sequencing

MHL Testcode : GG92
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

LGI1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Friedreich ataxia , - Repeat expansion analysis

MHL Testcode : GG93
Methodology : Fragment Analysis
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

FXN ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Fukuyama Congenital Muscular Dystrophy , gene sequencing ,

MHL Testcode : GG94
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

FKTN ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen GAN and DCAF8 gene sequencing

MHL Testcode : GG95
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

GAN and DCAF8 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen GBE1 gene sequencing

MHL Testcode : GG96
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

GBE1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen GCH1 gene sequencing

MHL Testcode : GG97
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

GCH1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Giant axonal neuropathy-1 , gene analysis

MHL Testcode : GG98
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

GAN ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Gordon Holmes syndrome , gene sequencing

MHL Testcode : GG99
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

RNF216 and OTUD4 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Hereditary essential tremor , gene sequencing

MHL Testcode : GG100
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

FUS and TENM4 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Hereditary spastic paraplegia gene panel

MHL Testcode : GG101
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

ABCD1 ✓
ALDH18A1 ✓
ALS2 ✓
AMPD2 ✓
AP4B1 ✓
AP4E1 ✓
AP4M1 ✓
AP4S1 ✓
AP5Z1 ✓
ARL6IP1 ✓
ATL1 ✓
ATP13A2 ✓
B4GALNT1 ✓
BICD2 ✓
BSCL2 ✓
C12orf65 ✓
C19orf12 ✓
CAPN1 ✓
CCT5 ✓
CPT1C ✓
CYP2U1 ✓
CYP7B1 ✓
DDHD1 ✓
DDHD2 ✓
ENTPD1 ✓
ERLIN1 ✓
ERLIN2 ✓
EXOSC3 ✓
FA2H ✓
FARS2 ✓
FLRT1 ✓
GAD1 ✓
GBA ✓
GBA2 ✓
GJC2 ✓
HSPD1 ✓
IBA57 ✓
KIAA0196 ✓
KIDINS220 ✓
KIF1A ✓
KIF1C ✓
KIF5A ✓
KLC2 ✓
L1CAM ✓
LYST ✓
MAG ✓
NIPA1 ✓
NT5C2 ✓
PLP1 ✓
PNPLA6 ✓
REEP1 ✓
REEP2 ✓
RTN2 ✓
SACS ✓
SLC16A2 ✓
SLC1A4 ✓
SLC2A1 ✓
SLC33A1 ✓
SPAST ✓
SPG11 ✓
SPG20 ✓
SPG21 ✓
SPG7 ✓
TECPR2 ✓
TFG ✓
USP8 ✓
VAMP1 ✓
VPS37A ✓
ZFYVE26 ✓
ZFYVE27 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen HINT1 gene sequencing

MHL Testcode : GG102
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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HINT1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Holoprosencephaly gene Panel

MHL Testcode : GG103
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

CDON ✓
CRIPTO ✓
DISP1 ✓
DLL1 ✓
FGF8 ✓
FOXH1 ✓
GAS1 ✓
GLI2 ✓
NODAL ✓
PTCH1 ✓
SHH ✓
SIX3 ✓
TGIF1 ✓
ZIC2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Huntington's disease , - Repeat expansion analysis

MHL Testcode : GG104
Methodology : Fragment Analysis
Disease Segment : Neurology
TAT : 28
Key genes :

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×

HTT ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Hyperekplexia gene panel

MHL Testcode : GG105
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

ARHGEF9 ✓
GLRA1 ✓
GLRB ✓
SLC6A5 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Hypomyelination syndrome gene panel

MHL Testcode : GG106
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

AIMP1 ✓
BCAP31 ✓
C11ORF73 ✓
DARS ✓
EGR2 ✓
EIF2B1 ✓
EIF2B2 ✓
EIF2B3 ✓
EIF2B4 ✓
EIF2B5 ✓
ERCC4 ✓
ERCC5 ✓
ERCC6 ✓
ERCC8 ✓
EXOSC8 ✓
FAM126A ✓
GJC2 ✓
HSPD1 ✓
MLC1 ✓
MPZ ✓
PLP1 ✓
POLR1C ✓
POLR3A ✓
POLR3B ✓
PYCR2 ✓
RARS ✓
SLC25A12 ✓
SLC33A1 ✓
SPTAN1 ✓
STXBP1 ✓
TBCD ✓
TUBB4A ✓
VPS11 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Idiopathic Generalized and Focal Epilepsy gene Panel

MHL Testcode : GG107
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

ALDH7A1 ✓
AMACR ✓
CACNA1H ✓
CACNB4 ✓
CASR ✓
CHRNA2 ✓
CHRNA4 ✓
CHRNB2 ✓
CLCN2 ✓
DEPDC5 ✓
EFHC1 ✓
GABRA1 ✓
GABRB3 ✓
GABRG2 ✓
GRIN2A ✓
KCNA1 ✓
KCNC1 ✓
KCNQ2 ✓
KCNQ3 ✓
KCNT1 ✓
LGI1 ✓
MTOR ✓
POLG ✓
PRRT2 ✓
RELN ✓
SCN1A ✓
SCN1B ✓
SCN2A ✓
SCN8A ✓
SCN9A ✓
SLC2A1 ✓
SLC6A1 ✓
STX1B ✓
TBC1D24 ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen IGHMBP2 gene sequencing

MHL Testcode : GG108
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

IGHMBP2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Joubert syndrome gene panel

MHL Testcode : GG109
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

AHI1 ✓
ARL13B ✓
B9D1 ✓
C2CD3 ✓
C5orf42 ✓
CC2D2A ✓
CEP104 ✓
CEP290 ✓
CEP41 ✓
CSPP1 ✓
DDX59 ✓
INPP5E ✓
KIAA0556 ✓
KIAA0586 ✓
KIAA0753 ✓
KIF7 ✓
LAMA1 ✓
MKS1 ✓
NPHP1 ✓
OFD1 ✓
PDE6D ✓
RPGRIP1L ✓
TCTN1 ✓
TCTN2 ✓
TCTN3 ✓
TMEM138 ✓
TMEM216 ✓
TMEM231 ✓
TMEM237 ✓
TMEM67 ✓
TTC21B ✓
ZNF423 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen KCNT1 gene sequencing

MHL Testcode : GG110
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

KCNT1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Krabbe disease , deletion and duplication analysis

MHL Testcode : GG111
Methodology : MLPA
Disease Segment : Neurology
TAT : 28
Key genes :

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×

GALC ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Krabbe disease , gene analysis

MHL Testcode : GG112
Methodology : NGS
Disease Segment : Neurology
TAT : 21
Key genes :

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×

GALC ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Leukodystrophy and Leukoencephalopathy gene Panel

MHL Testcode : GG113
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

AARS2 ✓
ABCD1 ✓
ACOX1 ✓
ACP5 ✓
ADAR ✓
ADGRG1 ✓
ADSL ✓
AGA ✓
AIMP1 ✓
AIMP2 ✓
ALDH3A2 ✓
ALDH5A1 ✓
ARSA ✓
ASPA ✓
ATP7A ✓
ATP7B ✓
BCAP31 ✓
BOLA3 ✓
BPTF ✓
CBS ✓
CLCN2 ✓
CLDN11 ✓
CLPP ✓
CNP ✓
CNTNAP1 ✓
COA8 ✓
COL4A1 ✓
COL4A2 ✓
COLGALT1 ✓
COQ2 ✓
COQ9 ✓
COX10 ✓
COX15 ✓
CPS1 ✓
CSF1R ✓
CTC1 ✓
CTSA ✓
CYP27A1 ✓
CYP2U1 ✓
CYP7B1 ✓
D2HGDH ✓
DAG1 ✓
DARS1 ✓
DARS2 ✓
DCAF17 ✓
DDHD2 ✓
DEGS1 ✓
DGUOK ✓
DNM1L ✓
EARS2 ✓
EIF2B1 ✓
EIF2B2 ✓
EIF2B3 ✓
EIF2B4 ✓
EIF2B5 ✓
EPRS1 ✓
ERCC6 ✓
ERCC8 ✓
ETFA ✓
ETFB ✓
ETFDH ✓
FA2H ✓
FARS2 ✓
FBXL4 ✓
FDFT1 ✓
FDX2 ✓
FH ✓
FOLR1 ✓
FOXRED1 ✓
FUCA1 ✓
GALC ✓
GALT ✓
GAN ✓
GBE1 ✓
GCDH ✓
GFAP ✓
GFM1 ✓
GJA1 ✓
GJB1 ✓
GJC2 ✓
GLA ✓
GLB1 ✓
HEPACAM ✓
HEXA ✓
HIKESHI ✓
HMGCL ✓
HSD17B4 ✓
HSPD1 ✓
HTRA1 ✓
HYCC1 ✓
IBA57 ✓
IDH2 ✓
IDS ✓
IFIH1 ✓
ISCA2 ✓
JAM3 ✓
KARS1 ✓
L2HGDH ✓
LAMA2 ✓
LMNB1 ✓
LRPPRC ✓
LYRM7 ✓
MARS2 ✓
MCOLN1 ✓
MLC1 ✓
MOCS1 ✓
MRPS22 ✓
MTFMT ✓
MTHFR ✓
MTHFS ✓
MYRF ✓
NAXD ✓
NAXE ✓
NDUFA1 ✓
NDUFA10 ✓
NDUFA12 ✓
NDUFA2 ✓
NDUFA9 ✓
NDUFAF2 ✓
NDUFAF4 ✓
NDUFAF5 ✓
NDUFAF6 ✓
NDUFB8 ✓
NDUFS1 ✓
NDUFS2 ✓
NDUFS3 ✓
NDUFS4 ✓
NDUFS7 ✓
NDUFS8 ✓
NDUFV1 ✓
NFU1 ✓
NKX6-2 ✓
NOTCH3 ✓
NPC1 ✓
NPC2 ✓
NUBPL ✓
OCLN ✓
OCRL ✓
OSGEP ✓
OTC ✓
PAH ✓
PC ✓
PDHA1 ✓
PEX1 ✓
PEX10 ✓
PEX11B ✓
PEX12 ✓
PEX13 ✓
PEX14 ✓
PEX16 ✓
PEX19 ✓
PEX2 ✓
PEX26 ✓
PEX3 ✓
PEX5 ✓
PEX6 ✓
PLAA ✓
PLEKHG2 ✓
PLP1 ✓
POLG ✓
POLR1A ✓
POLR1C ✓
POLR3A ✓
POLR3B ✓
POLR3K ✓
PPT1 ✓
PSAP ✓
PYCR2 ✓
RARS1 ✓
REEP1 ✓
RNASEH2A ✓
RNASEH2B ✓
RNASEH2C ✓
RNASET2 ✓
RNF216 ✓
RNF220 ✓
RRM2B ✓
SAMHD1 ✓
SCP2 ✓
SDHAF1 ✓
SDHB ✓
SLC16A2 ✓
SLC17A5 ✓
SLC19A3 ✓
SLC25A1 ✓
SLC25A12 ✓
SLC25A4 ✓
SLC6A9 ✓
SNORD118 ✓
SOX10 ✓
SPART ✓
SPG11 ✓
SPG7 ✓
STN1 ✓
SUCLA2 ✓
SUMF1 ✓
SURF1 ✓
TMEM106B ✓
TMEM63A ✓
TREM2 ✓
TREX1 ✓
TUBB4A ✓
TUFM ✓
TWNK ✓
TYMP ✓
TYROBP ✓
UFM1 ✓
UPB1 ✓
VPS11 ✓
WARS2 ✓
YY1 ✓
ZFYVE26 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen LGMD and Congenital Muscular Dystrophy gene Panel

MHL Testcode : GG114
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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ANO5 ✓
B3GALNT2 ✓
CAPN3 ✓
CAV3 ✓
COL4A1 ✓
COL4A2 ✓
CRPPA ✓
CRYAB ✓
DES ✓
DMD ✓
DNAJB6 ✓
DYSF ✓
FKRP ✓
FKTN ✓
GMPPB ✓
ITGA7 ✓
LAMA2 ✓
LARGE1 ✓
LIMS2 ✓
LMNA ✓
MEGF10 ✓
MYH7 ✓
MYOT ✓
PNPLA2 ✓
POGLUT1 ✓
POMGNT2 ✓
POMT1 ✓
SELENON ✓
SGCA ✓
SGCB ✓
SGCD ✓
SGCG ✓
SMCHD1 ✓
SPEG ✓
SYNE1 ✓
TCAP ✓
TNPO3 ✓
TOR1AIP1 ✓
TRAPPC11 ✓
TRIM32 ✓
TTN ✓
VMA21 ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Lissencephaly gene panel

MHL Testcode : GG116
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

ACTB ✓
ACTG1 ✓
ADGRG1 ✓
ARX ✓
ATP6V0A2 ✓
B3GALNT2 ✓
B4GAT1 ✓
CDK5 ✓
DCX ✓
DYNC1H1 ✓
FKRP ✓
FKTN ✓
FTO ✓
ISPD ✓
KATNB1 ✓
KIAA1279 ✓
KIF2A ✓
KIF5C ✓
LAMA2 ✓
LAMB1 ✓
LAMC3 ✓
LARGE ✓
NDE1 ✓
OCLN ✓
PAFAH1B1 ✓
PHGDH ✓
POMGNT1 ✓
POMGNT2 ✓
POMK ✓
POMT1 ✓
POMT2 ✓
RAB18 ✓
RAB3GAP1 ✓
RAB3GAP2 ✓
RELN ✓
RTTN ✓
SNAP29 ✓
SRD5A3 ✓
TBC1D20 ✓
TMEM5 ✓
TMTC3 ✓
TUBA1A ✓
TUBA8 ✓
TUBB ✓
TUBB2A ✓
TUBB2B ✓
TUBB3 ✓
TUBB4A ✓
TUBG1 ✓
VIPAS39 ✓
VLDLR ✓
VPS33B ✓
WDR62 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Macrocephaly and Overgrowth Syndrome gene Panel

MHL Testcode : GG117
Methodology : NGS
Disease Segment : Neurology
TAT : 21
Key genes :

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×

ABCC9 ✓
ADK ✓
AKT1 ✓
AKT2 ✓
AKT3 ✓
ANKH ✓
ASPA ✓
ASXL2 ✓
BLTP1 ✓
BRSK2 ✓
BRWD3 ✓
CCND2 ✓
CDKN1C ✓
CHD3 ✓
CHD4 ✓
CHD8 ✓
CUL4B ✓
D2HGDH ✓
DHCR24 ✓
DICER1 ✓
DIS3L2 ✓
DNMT3A ✓
DVL1 ✓
EED ✓
EIF2B5 ✓
ERF ✓
ETFA ✓
ETFB ✓
ETFDH ✓
EXT2 ✓
EZH2 ✓
FBLN5 ✓
FBN1 ✓
FGFR3 ✓
FOXP1 ✓
GATAD2B ✓
GCDH ✓
GFAP ✓
GLI3 ✓
GPC3 ✓
GPC4 ✓
GPSM2 ✓
GRIA3 ✓
H1-4 ✓
H19 ✓
HEPACAM ✓
HERC1 ✓
HRAS ✓
HUWE1 ✓
KCNH1 ✓
KDM1A ✓
KIF7 ✓
KMT2E ✓
KPTN ✓
KRAS ✓
L1CAM ✓
LAMB1 ✓
LBR ✓
MED12 ✓
MITF ✓
MLC1 ✓
MPDZ ✓
MTM1 ✓
MTOR ✓
NF1 ✓
NFIA ✓
NFIB ✓
NFIX ✓
NONO ✓
NPR2 ✓
NRAS ✓
NSD1 ✓
ODC1 ✓
OFD1 ✓
PDGFRB ✓
PHF21A ✓
PHF6 ✓
PIGA ✓
PIGM ✓
PIK3CA ✓
PIK3R2 ✓
PPP1CB ✓
PPP2R5D ✓
PTCH1 ✓
PTEN ✓
RAB39B ✓
RIN2 ✓
RNF125 ✓
RNF135 ✓
SETD2 ✓
SHANK3 ✓
SHOC2 ✓
SNX14 ✓
SOS1 ✓
SPRED1 ✓
STRADA ✓
SUFU ✓
SUZ12 ✓
SYN1 ✓
SZT2 ✓
TBC1D7 ✓
TCF20 ✓
TGFB3 ✓
TMEM94 ✓
TRIO ✓
TRIP12 ✓
TSC1 ✓
TSC2 ✓
UPF3B ✓
WNT5A ✓
ZBTB20 ✓
ZBTB7A ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen MECP2 gene sequencing

MHL Testcode : GG118
Methodology : NGS
Disease Segment : Neurology
TAT : 26
Key genes :

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×

MECP2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Metabolic Epilepsy gene Panel

MHL Testcode : GG119
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ABAT ✓
ADSL ✓
AGA ✓
ALDH5A1 ✓
ALDH7A1 ✓
AMT ✓
ARG1 ✓
BTD ✓
D2HGDH ✓
DHFR ✓
DNM1L ✓
DPYD ✓
DPYS ✓
ETFA ✓
ETFB ✓
ETFDH ✓
ETHE1 ✓
FH ✓
GAMT ✓
GCDH ✓
GCH1 ✓
GLDC ✓
GNE ✓
GPHN ✓
HIBCH ✓
L2HGDH ✓
MOCS1 ✓
MTHFR ✓
PGK1 ✓
PNPO ✓
POLG ✓
PRODH ✓
PTS ✓
QDPR ✓
SERAC1 ✓
SLC25A1 ✓
SLC25A15 ✓
SLC2A1 ✓
SLC39A8 ✓
SLC46A1 ✓
SUOX ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Metabolic Myopathy and Rhabdomyolysis gene Panel

MHL Testcode : GG120
Methodology : NGS
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

ABHD5 ✓
ACAD9 ✓
ACADM ✓
ACADVL ✓
AGK ✓
AGL ✓
AHCY ✓
ALDOA ✓
AMACR ✓
AMPD1 ✓
ANO5 ✓
ATP2A1 ✓
ATP7B ✓
B3GALNT2 ✓
B4GAT1 ✓
C1QBP ✓
CACNA1S ✓
CAPN3 ✓
CASQ1 ✓
CAV3 ✓
CHAT ✓
CHKB ✓
COQ2 ✓
COQ4 ✓
COQ7 ✓
COQ8A ✓
COQ9 ✓
COX15 ✓
COX20 ✓
COX6B1 ✓
CPT1A ✓
CPT2 ✓
CTDP1 ✓
DAG1 ✓
DGUOK ✓
DMD ✓
DNA2 ✓
DNAJB6 ✓
DPM1 ✓
DPM2 ✓
DPM3 ✓
DYSF ✓
EMD ✓
ENO3 ✓
ETFA ✓
ETFB ✓
ETFDH ✓
FBXL4 ✓
FDX2 ✓
FHL1 ✓
FKRP ✓
FKTN ✓
FLAD1 ✓
GAA ✓
GATM ✓
GBE1 ✓
GFER ✓
GMPPB ✓
GYG1 ✓
GYS1 ✓
HADH ✓
HADHA ✓
HADHB ✓
HMBS ✓
ISCU ✓
ITGA7 ✓
LAMA2 ✓
LAMP2 ✓
LARGE1 ✓
LDHA ✓
LPIN1 ✓
MAN2B1 ✓
MGME1 ✓
MICU1 ✓
MPV17 ✓
MYH3 ✓
OPA1 ✓
OPA3 ✓
PDSS1 ✓
PDSS2 ✓
PFKM ✓
PGAM2 ✓
PGK1 ✓
PGM1 ✓
PHKA1 ✓
PHKB ✓
PNPLA2 ✓
PNPLA8 ✓
POLG ✓
POLG2 ✓
POMGNT1 ✓
POMGNT2 ✓
POMK ✓
POMT1 ✓
POMT2 ✓
PUS1 ✓
PYGM ✓
RBCK1 ✓
RNASEH1 ✓
RRM2B ✓
RXYLT1 ✓
RYR1 ✓
SCN4A ✓
SDHA ✓
SGCA ✓
SGCB ✓
SGCD ✓
SGCG ✓
SIL1 ✓
SLC16A1 ✓
SLC22A5 ✓
SLC25A20 ✓
SLC25A3 ✓
SLC25A4 ✓
SLC25A42 ✓
STAC3 ✓
SUCLA2 ✓
SUCLG1 ✓
TANGO2 ✓
TCAP ✓
TK2 ✓
TNPO3 ✓
TRIM32 ✓
TRMT5 ✓
TSFM ✓
TWNK ✓
TYMP ✓
YARS2 ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Metachromatic leukodystrophy gene panel

MHL Testcode : GG121
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ARSA ✓
PSAP ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen MFSD8 gene sequencing

MHL Testcode : GG122
Methodology : NGS
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

MFSD8 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Microcephaly and Pontocerebellar Hypoplasia gene Panel

MHL Testcode : GG123
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

AKT3 ✓
AMPD2 ✓
ASPM ✓
ASXL1 ✓
ASXL3 ✓
ATR ✓
CASK ✓
CCDC47 ✓
CDK5RAP2 ✓
CENPF ✓
CENPJ ✓
CEP152 ✓
CEP63 ✓
CSNK2A1 ✓
DONSON ✓
DYNC1H1 ✓
DYRK1A ✓
EFTUD2 ✓
EXOSC3 ✓
GFM1 ✓
GPT2 ✓
KANSL1* ✓
KATNB1 ✓
KIF11 ✓
LIG4 ✓
MBD5 ✓
MCPH1# ✓
MED17 ✓
MFSD2A ✓
MIPEP* ✓
MRE11A ✓
MYCN ✓
MYO18B ✓
NCAPD3 ✓
NDE1 ✓
NHEJ1 ✓
OPHN1 ✓
PAFAH1B1 ✓
PCDH12 ✓
PCLO ✓
PCNT ✓
PHGDH ✓
PLK4 ✓
PNKP ✓
POMT1 ✓
PQBP1 ✓
QARS ✓
RARS2 ✓
RTTN ✓
SEPSECS ✓
SLC1A4 ✓
SMARCA2 ✓
SMARCE1 ✓
SOX11 ✓
STAG2 ✓
STAMBP ✓
STIL ✓
TBC1D20 ✓
TBC1D23 ✓
THOC6 ✓
TMTC3 ✓
TOE1 ✓
TOP3A ✓
TRMT10A ✓
TSEN2# ✓
TSEN54 ✓
TUBB* ✓
TUBB2B#* ✓
TUBGCP4 ✓
TUBGCP6 ✓
UBE3B ✓
VARS ✓
VRK1 ✓
WDR62 ✓
WDR73 ✓
XRCC4 ✓
ZNF148 ✓
ZNF335 ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Migraine gene Panel

MHL Testcode : GG124
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ANKLE2 ✓
ARFGEF2 ✓
ASPM ✓
ASXL3 ✓
ATR ✓
ATRX ✓
CASC5 ✓
CASK ✓
CDC6 ✓
CDK5RAP2 ✓
CDK6 ✓
CDKL5 ✓
CDT1 ✓
CENPE ✓
CENPJ ✓
CEP135 ✓
CEP152 ✓
CEP63 ✓
CIT ✓
CRIPT ✓
DIAPH1 ✓
DYRK1A ✓
FOXG1 ✓
IER3IP1 ✓
KATNB1 ✓
KIF11 ✓
LIG4 ✓
MCPH1 ✓
MECP2 ✓
MED17 ✓
MFSD2A ✓
MSMO1 ✓
NBN ✓
NDE1 ✓
NHEJ1 ✓
NIN ✓
ORC1 ✓
ORC4 ✓
ORC6 ✓
PCNT ✓
PHC1 ✓
PLK4 ✓
PNKP ✓
PPP1R15B ✓
QARS ✓
RAB18 ✓
RAB3GAP1 ✓
RAB3GAP2 ✓
RAD50 ✓
RBBP8 ✓
RTTN ✓
SASS6 ✓
SLC25A19 ✓
SLC2A1 ✓
SLC9A6 ✓
STAMBP ✓
STIL ✓
TBC1D20 ✓
TCF4 ✓
TRAPPC9 ✓
TRMT10A ✓
TSEN2 ✓
TSEN34 ✓
TSEN54 ✓
TUBGCP4 ✓
TUBGCP6 ✓
UBE3A ✓
WDFY3 ✓
WDR62 ✓
XRCC4 ✓
ZEB2 ✓
ZNF335 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Muscular dystrophy and congenital myopathy gene panel

MHL Testcode : GG125
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ACTA1 ✓
ANO5 ✓
B3GALNT2 ✓
B4GAT1 ✓
BAG3 ✓
BIN1 ✓
BVES ✓
CAPN3 ✓
CAV3 ✓
CCDC78 ✓
CFL2 ✓
CHKB ✓
CNTN1 ✓
COL12A1 ✓
COL6A1 ✓
COL6A2 ✓
COL6A3 ✓
CRYAB ✓
DAG1 ✓
DES ✓
DMD ✓
DNAJB6 ✓
DNM2 ✓
DYSF ✓
EMD ✓
FHL1 ✓
FKRP ✓
FKTN ✓
FLNC ✓
GMPPB ✓
GNE ✓
HNRNPA2B1 ✓
HNRNPDL ✓
ISCU ✓
ISPD ✓
ITGA7 ✓
KBTBD13 ✓
KLHL40 ✓
KLHL41 ✓
LAMA2 ✓
LAMP2 ✓
LARGE ✓
LDB3 ✓
LIMS2 ✓
LMNA ✓
LMOD3 ✓
MEGF10 ✓
MTM1 ✓
MYF6 ✓
MYH2 ✓
MYH7 ✓
MYOT ✓
NEB ✓
PABPN1 ✓
PLEC ✓
POGLUT1 ✓
POMGNT1 ✓
POMGNT2 ✓
POMK ✓
POMT1 ✓
POMT2 ✓
RYR1 ✓
SEPN1 ✓
SGCA ✓
SGCB ✓
SGCD ✓
SGCG ✓
SMCHD1 ✓
SPEG ✓
SYNE1 ✓
SYNE2 ✓
TCAP ✓
TMEM43 ✓
TMEM5 ✓
TNNT1 ✓
TNPO3 ✓
TOR1AIP1 ✓
TPM2 ✓
TPM3 ✓
TRAPPC11 ✓
TRIM32 ✓
TTN ✓
VCP ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen MYH3 gene sequencing

MHL Testcode : GG126
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

MYH3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Myotonia congenita , deletion and duplication analysis

MHL Testcode : GG127
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

CLCN1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Myotonia congenita gene panel

MHL Testcode : GG128
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

CLCN1 ✓
SCN4A ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen NCL and Progressive Myoclonic Epilepsy Panel

MHL Testcode : GG129
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

AFG3L2 ✓
ASAH1 ✓
ATP13A2 ✓
BRAT1 ✓
CERS1 ✓
CLN3 ✓
CLN5 ✓
CLN6 ✓
CLN8 ✓
CSTB ✓
CTSD ✓
CTSF ✓
DNAJC5 ✓
EPM2A ✓
FARS2 ✓
FOLR1 ✓
GABRB2 ✓
GOSR2 ✓
GRN ✓
KCNC1 ✓
KCTD7 ✓
MFSD8 ✓
NEU1 ✓
NHLRC1 ✓
POLG ✓
PPT1 ✓
PRICKLE1 ✓
SCARB2 ✓
SERPINI1 ✓
TBC1D24 ✓
TPP1 ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen NDUFS7 gene sequencing

MHL Testcode : GG130
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

NDUFS7 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Nemaline Myopathy gene Panel

MHL Testcode : GG131
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ACTA1 ✓
CFL2 ✓
KBTBD13 ✓
KLHL40 ✓
KLHL41 ✓
LMOD3 ✓
NEB ✓
TNNT1 ✓
TPM2 ✓
TPM3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neurodegeneration due to cerebral folate transport deficiency , gene sequencing

MHL Testcode : GG132
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

FOLR1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neurodegeneration with brain iron accumulation 2B , deletion and duplication analysis

MHL Testcode : GG133
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

PLA2G6 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neurodegeneration with brain iron accumulation gene panel

MHL Testcode : GG134
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ATP13A2 ✓
COASY ✓
C19orf12 ✓
CP ✓
DCAF17 ✓
FA2H ✓
FTL ✓
PANK2 ✓
PLA2G6 ✓
WDR45 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neurofibromatosis , gene analysis

MHL Testcode : GG135
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

NF1 ✓
NF2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neurofibromatosis type 1 , deletion and duplication analysis

MHL Testcode : GG136
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

NF1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neurofibromatosis type 1 , gene analysis

MHL Testcode : GG137
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

NF1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neurofibromatosis type 2 , deletion and duplication analysis

MHL Testcode : GG138
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

NF1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neurofibromatosis type 2 , gene analysis

MHL Testcode : GG139
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

NF2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neuronal ceroid lipofuscinosis gene panel

MHL Testcode : GG140
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ATP13A2 ✓
CLN3 ✓
CLN5 ✓
CLN6 ✓
CLN8 ✓
CTSD ✓
CTSF ✓
DNAJC5 ✓
GRN ✓
KCTD7 ✓
MFSD8 ✓
PPT1 ✓
TPP1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neuronal migration disorder gene panel

MHL Testcode : GG141
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ACTB ✓
ACTG1 ✓
ADGRG1 ✓
AKT3 ✓
ARFGEF2 ✓
ARX ✓
B3GALNT2 ✓
B4GAT1 ✓
CCND2 ✓
CDK5 ✓
COL4A1 ✓
COL4A2 ✓
DCX ✓
DEPDC5 ✓
DYNC1H1 ✓
EMX2 ✓
ERMARD ✓
FAT4 ✓
FIG4 ✓
FKRP ✓
FKTN ✓
FLNA ✓
GMPPB ✓
ISPD ✓
KATNB1 ✓
KIAA1279 ✓
KIF2A ✓
KIF5C ✓
L1CAM ✓
LAMB1 ✓
LARGE ✓
MCPH1 ✓
NDE1 ✓
NEDD4L ✓
OCLN ✓
PAFAH1B1 ✓
PI4KA ✓
PIK3CA ✓
PIK3R2 ✓
POMGNT1 ✓
POMGNT2 ✓
POMK ✓
POMT1 ✓
POMT2 ✓
RELN ✓
RTTN ✓
SHH ✓
SIX3 ✓
SRPX2 ✓
TMEM5 ✓
TUBA1A ✓
TUBA8 ✓
TUBB ✓
TUBB2A ✓
TUBB2B ✓
TUBB3 ✓
TUBG1 ✓
WDR62 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neuro-Ophthalmology gene Panel

MHL Testcode : GG142
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ACO2 ✓
ANTXR1 ✓
APTX ✓
CHN1 ✓
CISD2 ✓
FDXR ✓
FRMD7 ✓
GPR143 ✓
HESX1 ✓
KIF21A ✓
MFN2 ✓
MTRFR ✓
NDUFS1 ✓
NR2F1 ✓
OPA1 ✓
OPA3 ✓
OTX2 ✓
PAX6 ✓
PHOX2A ✓
POLG ✓
PRPS1 ✓
ROBO3 ✓
RRM2B ✓
RTN4IP1 ✓
SALL4 ✓
SETX ✓
SLC25A4 ✓
SLC25A46 ✓
SLC38A8 ✓
SOX2 ✓
SPG7 ✓
TIMM8A ✓
TK2 ✓
TMEM126A ✓
TUBB3 ✓
TWNK ✓
TYMP ✓
WFS1 ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Neurotransmitter disorders gene panel

MHL Testcode : GG143
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ABAT ✓
ALDH5A1 ✓
ALDH7A1 ✓
AMT ✓
ARHGEF9 ✓
ATP13A2 ✓
C19orf12 ✓
CACNA1A ✓
CACNA1S ✓
CACNB2 ✓
CACNB4 ✓
COASY ✓
DBH ✓
DDC ✓
DNAJC6 ✓
FBXO7 ✓
FTL ✓
GAD1 ✓
GCH1 ✓
GCSH ✓
GLDC ✓
GLRA1 ✓
GLRB ✓
GPHN ✓
KCNA1 ✓
LRRK2 ✓
MAOA ✓
MAOB ✓
PANK2 ✓
PARK2 ✓
PARK7 ✓
PCBD1 ✓
PHGDH ✓
PINK1 ✓
PLA2G6 ✓
PNPO ✓
PSAT1 ✓
PSPH ✓
PTS ✓
QDPR ✓
RAB39B ✓
SCN4A ✓
SLC18A2 ✓
SLC1A3 ✓
SLC25A22 ✓
SLC6A3 ✓
SLC6A5 ✓
SNCA ✓
SPR ✓
SYNJ1 ✓
TH ✓
VPS13C ✓
WDR45 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen NKX2-1 gene sequencing

MHL Testcode : GG144
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

NKX2-1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen NOTCH3 , gene analysis

MHL Testcode : GG145
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

CADASIL ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen PANK2 gene sequencing

MHL Testcode : GG146
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

PANK2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Pantothenate kinase-associated neurodegeneration , deletion and duplication analysis

MHL Testcode : GG147
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

PANK2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Parkinson Disease gene Panel

MHL Testcode : GG148
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ATP13A2 ✓
ATP1A3 ✓
ATP7B ✓
C19ORF12 ✓
CHCHD10 ✓
CHCHD2 ✓
CP* ✓
CSF1R ✓
DCTN1 ✓
DNAJC12 ✓
DNAJC5 ✓
DNAJC6 ✓
FBXO7 ✓
FTL ✓
GBA* ✓
GCH1 ✓
GRN ✓
LRRK2 ✓
MAPT ✓
MT-ATP6 ✓
MT-ATP8 ✓
MT-CO1 ✓
MT-CO2 ✓
MT-CO3 ✓
MT-CYB ✓
MT-ND1 ✓
MT-ND2 ✓
MT-ND3 ✓
MT-ND4 ✓
MT-ND4L ✓
MT-ND5 ✓
MT-ND6 ✓
MT-RNR1 ✓
MT-RNR2 ✓
MT-TA ✓
MT-TC ✓
MT-TD ✓
MT-TE ✓
MT-TF ✓
MT-TG ✓
MT-TH ✓
MT-TI ✓
MT-TK ✓
MT-TL1 ✓
MT-TL2 ✓
MT-TM ✓
MT-TN ✓
MT-TP ✓
MT-TQ ✓
MT-TR ✓
MT-TS1 ✓
MT-TS2 ✓
MT-TT ✓
MT-TV ✓
MT-TW ✓
MT-TY ✓
NUS1* ✓
PANK2 ✓
PARK2 ✓
PARK7 ✓
PDE10A ✓
PDE8B ✓
PDGFB ✓
PDGFRB ✓
PINK1 ✓
PLA2G6 ✓
POLG ✓
PRKRA ✓
PSEN1 ✓
RAB39B ✓
SLC20A2 ✓
SLC30A10 ✓
SLC39A14# ✓
SLC6A3 ✓
SNCA ✓
SPR ✓
SYNJ1 ✓
TH ✓
VPS13A ✓
VPS13C ✓
VPS35* ✓
XPR1 ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Periodic Paralysis gene Panel

MHL Testcode : GG149
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ATP1A2 ✓
CACNA1S ✓
KCNJ2 ✓
MCM3AP ✓
RYR1 ✓
SCN4A ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen PIEZO2 gene sequencing

MHL Testcode : GG150
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

PIEZO2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen PLP1 gene sequencing

MHL Testcode : GG151
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

PLP1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen PMP22 deletion and duplication analysis

MHL Testcode : GG152
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

PMP22 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen PMP22 gene analysis ,

MHL Testcode : GG153
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

PMP22 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Polymicrogyria gene Panel

MHL Testcode : GG154
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ADGRG1 ✓
AKT3 ✓
FH ✓
GPSM2 ✓
KIFBP ✓
LAMC3 ✓
NDE1 ✓
NSDHL ✓
OCLN ✓
RAB18 ✓
SRPX2 ✓
TUBA1A ✓
TUBA8 ✓
TUBB2A ✓
TUBB2B ✓
TUBB3 ✓
WDR62 ✓
✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Pontocerebellar hypoplasia gene panel

MHL Testcode : GG155
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

AMPD2 ✓
CASK ✓
CHMP1A ✓
CLP1 ✓
EXOSC3 ✓
EXOSC8 ✓
PCLO ✓
RARS2 ✓
SEPSECS ✓
TBC1D23 ✓
TOE1 ✓
TSEN15 ✓
TSEN2 ✓
TSEN34 ✓
TSEN54 ✓
VPS53 ✓
VRK1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Porphyria gene Panel

MHL Testcode : GG156
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ALAD ✓
ALAS2 ✓
CLPX ✓
CPOX ✓
FECH ✓
GATA1 ✓
HMBS ✓
PPOX ✓
UROD ✓
UROS ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen PRKN gene deletion and duplication analysis

MHL Testcode : GG157
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

PRKN ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen PRKRA gene sequencing

MHL Testcode : GG158
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

PRKRA ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Progressive myoclonic epilepsy gene panel

MHL Testcode : GG159
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ADRA2B ✓
ASAH1 ✓
ATP13A2 ✓
CERS1 ✓
CLN3 ✓
CLN5 ✓
CLN6 ✓
CLN8 ✓
CSTB ✓
CTSD ✓
CTSF ✓
DNAJC5 ✓
EPM2A ✓
FOLR1 ✓
GOSR2 ✓
GRN ✓
KCNC1 ✓
KCTD7 ✓
LMNB2 ✓
MFSD8 ✓
NEU1 ✓
NHLRC1 ✓
PPT1 ✓
PRDM8 ✓
PRICKLE1 ✓
PRICKLE2 ✓
SCARB2 ✓
TPP1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen PSEN1 gene sequencing

MHL Testcode : GG160
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

PSEN1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Pyridoxine-dependent epilepsy , gene analysis

MHL Testcode : GG161
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ALDH7A1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen RANBP2 gene sequencing

MHL Testcode : GG162
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

RANBP2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Rett Syndrome , deletion and duplication analysis

MHL Testcode : GG163
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

MECP2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Rett Syndrome gene panel

MHL Testcode : GG164
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

CDKL5 ✓
FOXG1 ✓
MECP2 ✓
MEF2C ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen RSRC1 gene sequencing

MHL Testcode : GG165
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

RSRC1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen SACS gene sequencing

MHL Testcode : GG166
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

SACS ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Sandhoff disease , gene sequencing

MHL Testcode : GG167
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

HEXB ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Septo-Optic Dysplasia Panel

MHL Testcode : GG168
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

GLI2 ✓
HESX1 ✓
HK1 ✓
OTX2 ✓
PAX6 ✓
PROP1 ✓
SOX2 ✓
SOX3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen SETX gene sequencing

MHL Testcode : GG169
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

SETX ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen SMN and NAIP deletion and duplication analysis

MHL Testcode : GG170
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

SMN and NAIP ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spastic Paraplegia gene Panel

MHL Testcode : GG171
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ABCD1 ✓
ACO2 ✓
ADAR ✓
AFG3L2 ✓
ALDH18A1 ✓
ALS2 ✓
AMPD2 ✓
AP4B1 ✓
AP4E1 ✓
AP4M1 ✓
AP4S1 ✓
AP5Z1 ✓
ARG1 ✓
ARL6IP1 ✓
ARSI ✓
ATL1 ✓
ATL3 ✓
ATP13A2 ✓
ATP2B4 ✓
ATRX ✓
B4GALNT1 ✓
BICD2 ✓
BSCL2 ✓
C19orf12 ✓
CAPN1 ✓
CCT5 ✓
CPT1C ✓
CYP27A1 ✓
CYP2U1 ✓
CYP7B1 ✓
DARS1 ✓
DDHD1 ✓
DDHD2 ✓
DSTYK ✓
ENTPD1 ✓
ERLIN1 ✓
ERLIN2 ✓
EXOSC3 ✓
FA2H ✓
FARS2 ✓
FLRT1 ✓
GAD1 ✓
GBA2 ✓
GCH1 ✓
GJC2 ✓
GM2A ✓
HACE1 ✓
HEXA ✓
HEXB ✓
HSPD1 ✓
IBA57 ✓
IFIH1 ✓
ITPR1 ✓
KDM5C ✓
KIDINS220 ✓
KIF1A ✓
KIF1C ✓
KIF5A ✓
L1CAM ✓
LYST ✓
MAG ✓
MARS1 ✓
MFN2 ✓
MTRFR ✓
NARS2 ✓
NIPA1 ✓
NT5C2 ✓
PGAP1 ✓
PLA2G6 ✓
PLP1 ✓
PNPLA6 ✓
POLR3A ✓
RAB3GAP2 ✓
REEP1 ✓
REEP2 ✓
RNF170 ✓
RTN2 ✓
SACS ✓
SARS2 ✓
SERAC1 ✓
SETX ✓
SLC16A2 ✓
SLC25A15 ✓
SLC33A1 ✓
SPART ✓
SPAST ✓
SPG11 ✓
SPG21 ✓
SPG7 ✓
SPTAN1 ✓
TECPR2 ✓
TFG ✓
TRPV4 ✓
TUBB4A ✓
UBAP1 ✓
UCHL1 ✓
UNC80 ✓
USP8 ✓
VAMP1 ✓
VCP ✓
VPS37A ✓
WASHC5 ✓
WDR48 ✓
ZFR ✓
ZFYVE26 ✓
ZFYVE27 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinal Muscular Atrophy , gene analysis

MHL Testcode : GG172
Methodology : Sanger Sequencing
Disease Segment : Neurology
TAT :
Key genes :

+ Show Genes

×

SMN1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinal Muscular Atrophy , deletion and duplication analysis

MHL Testcode : GG173
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

SMN1 ✓
SMN2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinal Muscular Atrophy gene Panel

MHL Testcode : GG174
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ASAH1 ✓
ASCC1 ✓
ATP7A ✓
BICD2 ✓
BSCL2 ✓
CHCHD10 ✓
DNAJB2 ✓
DYNC1H1 ✓
FBXO38 ✓
GARS ✓
HSPB8 ✓
IGHMBP2 ✓
LAS1L ✓
PLEKHG5 ✓
SIGMAR1 ✓
SLC5A7 ✓
TRPV4 ✓
TRIP4 ✓
UBA1 ✓
VAPB ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinocerebellar ataxia 1 , repeat expansion analysis

MHL Testcode : GG175
Methodology : Fragment Analysis
Disease Segment : Neurology
TAT :
Key genes :

+ Show Genes

×

ATXN1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinocerebellar ataxia 12 , repeat expansion analysis

MHL Testcode : GG176
Methodology : Fragment Analysis
Disease Segment : Neurology
TAT :
Key genes :

+ Show Genes

×

PPP2R2B ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinocerebellar ataxia 2 , repeat expansion analysis

MHL Testcode : GG177
Methodology : Fragment Analysis
Disease Segment : Neurology
TAT :
Key genes :

+ Show Genes

×

ATXN2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinocerebellar ataxia 3 , repeat expansion analysis

MHL Testcode : GG178
Methodology : Fragment Analysis
Disease Segment : Neurology
TAT :
Key genes :

+ Show Genes

×

ATXN3 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinocerebellar ataxia 6 , repeat expansion analysis

MHL Testcode : GG179
Methodology : Fragment Analysis
Disease Segment : Neurology
TAT :
Key genes :

+ Show Genes

×

CACNA1A ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinocerebellar ataxia 7 , repeat expansion analysis

MHL Testcode : GG180
Methodology : Fragment Analysis
Disease Segment : Neurology
TAT :
Key genes :

+ Show Genes

×

ATXN7 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Spinocerebellar ataxia repeat expansion analysis: SCA1, SCA2, SCA3, SCA6, SCA7,SCA12

MHL Testcode : GG181
Methodology : Fragment Analysis
Disease Segment : Neurology
TAT :
Key genes :

+ Show Genes

×

ATXN1 ✓
ATXN2 ✓
ATXN3 ✓
CACNA1A ✓
ATXN7 ✓
PPP2R2B ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen SPTBN2 gene sequencing

MHL Testcode : GG182
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

SPTBN2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Tay-Sachs disease , deletion and duplication analysis

MHL Testcode : GG183
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

HEXA ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Tay-Sachs disease , gene analysis

MHL Testcode : GG184
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

HEXA ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen TBC1D24 gene analysis

MHL Testcode : GG185
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

TBC1D24 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen TCF4 gene sequencing

MHL Testcode : GG186
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

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×

TCF4 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen TIA1 and DES genes sequencing

MHL Testcode : GG187
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

TIA1 and DES ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen Tuberous Sclerosis (TSC1 and TSC2) gene Panel

MHL Testcode : GG188
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

TSC1 ✓
TSC2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen TSC1 deletion and duplication analysis

MHL Testcode : GG189
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

TSC1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen TSC2 deletion and duplication analysis

MHL Testcode : GG190
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

TSC2 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen X-linked adrenoleukodystrophy , deletion and duplication analysis

MHL Testcode : GG191
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

ABCD1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen X-linked Intellectual Disability gene Panel

MHL Testcode : GG192
Methodology : NGS
Disease Segment : Neurology
TAT : 28
Key genes :

+ Show Genes

×

ABCD1 ✓
ACSL4 ✓
AFF2 ✓
AGTR2 ✓
AIFM1 ✓
ALG13 ✓
AMMECR1 ✓
AP1S2 ✓
ARHGEF6 ✓
ARHGEF9 ✓
ARSL ✓
ARX ✓
ATP6AP2 ✓
ATP7A ✓
ATRX ✓
BCAP31 ✓
BCOR ✓
BCORL1 ✓
BRWD3 ✓
CASK ✓
CCDC22 ✓
CDK16 ✓
CDKL5 ✓
CLCN4 ✓
CNKSR2 ✓
CUL4B ✓
DCX ✓
DDX3X ✓
DKC1 ✓
DLG3 ✓
DMD ✓
EBP ✓
EIF2S3 ✓
FAAH2 ✓
FAM50A ✓
FANCB ✓
FGD1 ✓
FLNA ✓
FMR1 ✓
FRMPD4 ✓
FTSJ1 ✓
GDI1 ✓
GK ✓
GPC3 ✓
GPKOW ✓
GRIA3 ✓
GRIPAP1 ✓
HCCS ✓
HCFC1 ✓
HDAC6 ✓
HDAC8 ✓
HMGB3 ✓
HNRNPH2 ✓
HPRT1 ✓
HSD17B10 ✓
HUWE1 ✓
IDS ✓
IGBP1 ✓
IKBKG ✓
IL1RAPL1 ✓
IQSEC2 ✓
KDM5C ✓
KDM6A ✓
KIF4A ✓
KLF8 ✓
KLHL15 ✓
L1CAM ✓
LAMP2 ✓
LAS1L ✓
MAOA ✓
MBTPS2 ✓
MECP2 ✓
MED12 ✓
MID1 ✓
MID2 ✓
MSL3 ✓
MTM1 ✓
NAA10 ✓
NDP ✓
NDUFA1 ✓
NEXMIF ✓
NHS ✓
NLGN3 ✓
NLGN4X ✓
NONO ✓
NSDHL ✓
OCRL ✓
OFD1 ✓
OGT ✓
OPHN1 ✓
OTC ✓
PAK3 ✓
PCDH19 ✓
PDHA1 ✓
PGK1 ✓
PHF6 ✓
PHF8 ✓
PIGA ✓
PLP1 ✓
POLA1 ✓
PORCN ✓
PQBP1 ✓
PRPS1 ✓
PTCHD1 ✓
RAB39B ✓
RBM10 ✓
RLIM ✓
RNF113A ✓
RPL10 ✓
RPS6KA3 ✓
SHROOM4 ✓
SLC16A2 ✓
SLC35A2 ✓
SLC6A8 ✓
SLC9A6 ✓
SLC9A7 ✓
SMC1A ✓
SMS ✓
SOX3 ✓
SRPX2 ✓
SSR4 ✓
STAG2 ✓
STEEP1 ✓
SYN1 ✓
SYP ✓
TAF1 ✓
THOC2 ✓
TIMM8A ✓
TMLHE ✓
TSPAN7 ✓
UBE2A ✓
UPF3B ✓
USP27X ✓
USP9X ✓
WDR45 ✓
ZC4H2 ✓
ZDHHC9 ✓
ZFP92 ✓
ZMYM3 ✓
ZNF674 ✓
ZNF711 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

MicroGen X-linked spastic paraplegia-2 , deletion and duplication analysis

MHL Testcode : GG193
Methodology : MLPA
Disease Segment : Neurology
TAT : 21
Key genes :

+ Show Genes

×

PLP1 ✓
Specimen : Blood - 4 ml, EDTA
Shipping Conditions : Blood - 20-25°C

Neurology Tests

MicroGen 4H syndrome gene panel - GG40

MicroGen ABCD1 gene analysis - GG41

MicroGen ADGRG1 gene sequencing - GG42

MicroGen Adrenoleukodystrophy , gene analysis - GG43

MicroGen ADSSL1 gene analysis - GG44

MicroGen Aicardi-Goutieres syndrome gene panel - GG45

MicroGen Alexander disease , gene analysis - GG46

MicroGen Alkaptonuria , gene analysis - GG47

MicroGen Amyotrophic Lateral Sclerosis gene panel - GG48

MicroGen Arthrogryposis and congenital myasthenic syndrome gene panel - GG49

MicroGen Ataxia-telangiectasia , deletion and duplication analysis - GG50

MicroGen Ataxia-telangiectasia , gene analysis - GG51

MicroGen ATP1A2 and ATP1A3 gene sequencing - GG52

MicroGen ATRX gene analysis - GG53

MicroGen Autism Spectrum Disorders gene panel , - GG54

MicroGen Autosomal dominant adult-onset demyelinating leukodystrophy , deletion and duplication analysis - GG55

MicroGen Benign infantile epilepsy gene panel - GG56

MicroGen Comprehensive Epilepsy gene Panel - GG57

MicroGen Brown Vialetto-Van Laere syndrome gene panel - GG58

MicroGen Calpainopathy and LGMD2A , deletion and duplication analysis - GG59

MicroGen Canavan disease , gene analysis - GG60

MicroGen CAPN3 gene sequencing - GG61

MicroGen Cerebral Cavernous Malformation gene Panel - GG62

MicroGen Charcot-Marie-Tooth 1A and HNPP , deletion and duplication analysis - GG63

MicroGen Charcot-Marie-Tooth and sensory neuropathies gene panel - GG64

MicroGen Charcot-Marie-Tooth type 4 , deletion and duplication analysis - GG65

MicroGen Charcot-Marie-Tooth type 4C , deletion and duplication analysis - GG66

MicroGen CLP1 gene sequencing - GG67

MicroGen Coenzyme q10 Deficiency gene panel - GG68

MicroGen Collagen Type VI-Related Disorders gene panel - GG69

MicroGen Congenital Muscular Dystrophy , deletion and duplication analysis - GG70

MicroGen Comprehensive neurology gene panel - GG71

MicroGen Congenital Myasthenic Syndromes gene Panel - GG72

MicroGen Creatine Metabolism Deficiency gene Panel - GG73

MicroGen CSTB gene sequencing - GG74

MicroGen Cystic megalencephaly , gene analysis - GG75

MicroGen Dementia gene Panel - GG76

MicroGen Dravet syndrome , deletion and duplication analysis - GG77

MicroGen Dravet syndrome , gene analysis - GG78

MicroGen Duchenne Muscular Dystrophy , deletion and duplication analysis - GG79

MicroGen Duchenne Muscular Dystrophy , gene sequencing - GG80

MicroGen DYSF gene sequencing - GG81

MicroGen Dysferlinopathy and LGMD2B , deletion and duplication analysis - GG82

MicroGen Dystonia gene panel - GG83

MicroGen Dystonia 28 , gene sequencing - GG84

MicroGen Early infantile epileptic encephalopathy-4 , deletion and duplication analysis - GG85

MicroGen Early-onset juvenile parkinsonism gene panel - GG86

MicroGen Emery-Dreifuss Muscular Dystrophy gene Panel - GG87

MicroGen Epileptic encephalopathy gene panel - GG88

MicroGen Episodic ataxia gene panel - GG89

MicroGen Familial female mental retardation and epilepsy gene panel - GG90

MicroGen Familial hemiplegic migraine gene panel - GG91

MicroGen Familial temporal lobe epilepsy-1 , gene sequencing - GG92

MicroGen Friedreich ataxia , - Repeat expansion analysis - GG93

MicroGen Fukuyama Congenital Muscular Dystrophy , gene sequencing , - GG94

MicroGen GAN and DCAF8 gene sequencing - GG95

MicroGen GBE1 gene sequencing - GG96

MicroGen GCH1 gene sequencing - GG97

MicroGen Giant axonal neuropathy-1 , gene analysis - GG98

MicroGen Gordon Holmes syndrome , gene sequencing - GG99

MicroGen Hereditary essential tremor , gene sequencing - GG100

MicroGen Hereditary spastic paraplegia gene panel - GG101

MicroGen HINT1 gene sequencing - GG102

MicroGen Holoprosencephaly gene Panel - GG103

MicroGen Huntington's disease , - Repeat expansion analysis - GG104

MicroGen Hyperekplexia gene panel - GG105

MicroGen Hypomyelination syndrome gene panel - GG106

MicroGen Idiopathic Generalized and Focal Epilepsy gene Panel - GG107

MicroGen IGHMBP2 gene sequencing - GG108

MicroGen Joubert syndrome gene panel - GG109

MicroGen KCNT1 gene sequencing - GG110

MicroGen Krabbe disease , deletion and duplication analysis - GG111

MicroGen Krabbe disease , gene analysis - GG112

MicroGen Leukodystrophy and Leukoencephalopathy gene Panel - GG113

MicroGen LGMD and Congenital Muscular Dystrophy gene Panel - GG114

MicroGen Lissencephaly gene panel - GG116

MicroGen Macrocephaly and Overgrowth Syndrome gene Panel - GG117

MicroGen MECP2 gene sequencing - GG118

MicroGen Metabolic Epilepsy gene Panel - GG119

MicroGen Metabolic Myopathy and Rhabdomyolysis gene Panel - GG120

MicroGen Metachromatic leukodystrophy gene panel - GG121

MicroGen MFSD8 gene sequencing - GG122

MicroGen Microcephaly and Pontocerebellar Hypoplasia gene Panel - GG123

MicroGen Migraine gene Panel - GG124

MicroGen Muscular dystrophy and congenital myopathy gene panel - GG125

MicroGen MYH3 gene sequencing - GG126

MicroGen Myotonia congenita , deletion and duplication analysis - GG127

MicroGen Myotonia congenita gene panel - GG128

MicroGen NCL and Progressive Myoclonic Epilepsy Panel - GG129

MicroGen NDUFS7 gene sequencing - GG130

MicroGen Nemaline Myopathy gene Panel - GG131

MicroGen Neurodegeneration due to cerebral folate transport deficiency , gene sequencing - GG132

MicroGen Neurodegeneration with brain iron accumulation 2B , deletion and duplication analysis - GG133

MicroGen Neurodegeneration with brain iron accumulation gene panel - GG134

MicroGen Neurofibromatosis , gene analysis - GG135

MicroGen Neurofibromatosis type 1 , deletion and duplication analysis - GG136

MicroGen Neurofibromatosis type 1 , gene analysis - GG137

MicroGen Neurofibromatosis type 2 , deletion and duplication analysis - GG138

MicroGen Neurofibromatosis type 2 , gene analysis - GG139

MicroGen Neuronal ceroid lipofuscinosis gene panel - GG140

MicroGen Neuronal migration disorder gene panel - GG141

MicroGen Neuro-Ophthalmology gene Panel - GG142

MicroGen Neurotransmitter disorders gene panel - GG143

MicroGen NKX2-1 gene sequencing - GG144

MicroGen NOTCH3 , gene analysis - GG145

MicroGen PANK2 gene sequencing - GG146

MicroGen Pantothenate kinase-associated neurodegeneration , deletion and duplication analysis - GG147

MicroGen Parkinson Disease gene Panel - GG148

MicroGen Periodic Paralysis gene Panel - GG149

MicroGen PIEZO2 gene sequencing - GG150

MicroGen PLP1 gene sequencing - GG151

MicroGen PMP22 deletion and duplication analysis - GG152

MicroGen PMP22 gene analysis , - GG153

MicroGen Polymicrogyria gene Panel - GG154

MicroGen Pontocerebellar hypoplasia gene panel - GG155

MicroGen Porphyria gene Panel - GG156

MicroGen PRKN gene deletion and duplication analysis - GG157

MicroGen PRKRA gene sequencing - GG158

MicroGen Progressive myoclonic epilepsy gene panel - GG159

MicroGen PSEN1 gene sequencing - GG160

MicroGen Pyridoxine-dependent epilepsy , gene analysis - GG161

MicroGen RANBP2 gene sequencing - GG162

MicroGen Rett Syndrome , deletion and duplication analysis - GG163

MicroGen Rett Syndrome gene panel - GG164

MicroGen RSRC1 gene sequencing - GG165

MicroGen SACS gene sequencing - GG166

MicroGen Sandhoff disease , gene sequencing - GG167

MicroGen Septo-Optic Dysplasia Panel - GG168

MicroGen SETX gene sequencing - GG169

MicroGen SMN and NAIP deletion and duplication analysis - GG170

MicroGen Spastic Paraplegia gene Panel - GG171

MicroGen Spinal Muscular Atrophy , gene analysis - GG172

MicroGen Spinal Muscular Atrophy , deletion and duplication analysis - GG173

MicroGen Spinal Muscular Atrophy gene Panel - GG174

MicroGen Spinocerebellar ataxia 1 , repeat expansion analysis - GG175

MicroGen Spinocerebellar ataxia 12 , repeat expansion analysis - GG176

MicroGen Spinocerebellar ataxia 2 , repeat expansion analysis - GG177

MicroGen Spinocerebellar ataxia 3 , repeat expansion analysis - GG178

MicroGen Spinocerebellar ataxia 6 , repeat expansion analysis - GG179

MicroGen Spinocerebellar ataxia 7 , repeat expansion analysis - GG180

MicroGen Spinocerebellar ataxia repeat expansion analysis: SCA1, SCA2, SCA3, SCA6, SCA7,SCA12 - GG181

MicroGen SPTBN2 gene sequencing - GG182

MicroGen Tay-Sachs disease , deletion and duplication analysis - GG183

MicroGen Tay-Sachs disease , gene analysis - GG184

MicroGen TBC1D24 gene analysis - GG185

MicroGen TCF4 gene sequencing - GG186

MicroGen TIA1 and DES genes sequencing - GG187

MicroGen Tuberous Sclerosis (TSC1 and TSC2) gene Panel - GG188

MicroGen TSC1 deletion and duplication analysis - GG189

MicroGen TSC2 deletion and duplication analysis - GG190

MicroGen X-linked adrenoleukodystrophy , deletion and duplication analysis - GG191

MicroGen X-linked Intellectual Disability gene Panel - GG192

MicroGen X-linked spastic paraplegia-2 , deletion and duplication analysis - GG193