Tests

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG40	NGS	Neurology	28	+ Show Genes × 2 Genes POLR3A POLR3B

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG41	NGS	Neurology	28	+ Show Genes × 1 Genes ABCD1

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG42	NGS	Neurology	28	+ Show Genes × 1 Genes ADGRG1

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG43	NGS	Neurology	28	+ Show Genes × 1 Genes ABCD1

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG44	NGS	Neurology	28	+ Show Genes × 1 Genes ADSSL1

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG45	NGS	Neurology	28	+ Show Genes × 7 Genes ADAR IFIH1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG46	NGS	Neurology	28	+ Show Genes × 1 Genes GFAP

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG47	NGS	Neurology	28	+ Show Genes × 1 Genes HGD

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG48	NGS	Neurology	28	+ Show Genes × 33 Genes 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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG49	NGS	Neurology	28	+ Show Genes × 46 Genes 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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG50	MLPA	Neurology	21	+ Show Genes × 1 Genes ATM

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG51	NGS	Neurology	28	+ Show Genes × 1 Genes ATM

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG52	NGS	Neurology	28	+ Show Genes × 1 Genes ATP1A2 and ATP1A3

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG53	NGS	Neurology	28	+ Show Genes × 1 Genes ATRX

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG54	NGS	Neurology	28	+ Show Genes × 170 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG55	MLPA	Neurology	21	+ Show Genes × 1 Genes LMNB1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG56	NGS	Neurology	28	+ Show Genes × 6 Genes CHRNA2 KCNQ2 KCNQ3 PRRT2 SCN2A SCN8A

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG57	NGS	Neurology	28	+ Show Genes × 1057 Genes 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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG58	NGS	Neurology	28	+ Show Genes × 1 Genes SLC52A2 & SLC52A3

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG59	MLPA	Neurology	21	+ Show Genes × 1 Genes CAPN3

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG60	NGS	Neurology	28	+ Show Genes × 1 Genes ASPA

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG61	NGS	Neurology	28	+ Show Genes × 1 Genes CAPN3

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG62	NGS	Neurology	28	+ Show Genes × 3 Genes CCM2 KRIT1 PDCD10

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG63	MLPA	Neurology	21	+ Show Genes × 3 Genes PMP22 COX10 TEKT3

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG64	NGS	Neurology	28	+ Show Genes × 79 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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG65	MLPA	Neurology	21	+ Show Genes × 4 Genes EGR2 GDAP1 NEFL PRX

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG66	MLPA	Neurology	21	+ Show Genes × 2 Genes SH3TC2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG67	NGS	Neurology	28	+ Show Genes × 1 Genes CLP1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG68	NGS	Neurology	28	+ Show Genes × 12 Genes APTX COQ2 COQ4 COQ6 COQ8A COQ8B COQ9 ETFA ETFB ETFDH PDSS1 PDSS2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG69	NGS	Neurology	28	+ Show Genes × 6 Genes COL12A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG70	MLPA	Neurology	21	+ Show Genes × 1 Genes LAMA2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG71	NGS	Neurology	28	+ Show Genes × 1 Genes 1476 Genes

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG72	NGS	Neurology	28	+ Show Genes × 1 Genes CSTB

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG73	NGS	Neurology	28	+ Show Genes × 3 Genes GATM GAMT SLC6A8

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG74	NGS	Neurology	28	+ Show Genes × 1 Genes CSTB

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG75	NGS	Neurology	28	+ Show Genes × 1 Genes MLC1

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG76	NGS	Neurology	28	+ Show Genes × 21 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG77	MLPA	Neurology	21	+ Show Genes × 1 Genes SCN1A

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG78	NGS	Neurology	28	+ Show Genes × 1 Genes SCN1A

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG79	MLPA	Neurology	21	+ Show Genes × 1 Genes DMD

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG80	NGS	Neurology	28	+ Show Genes × 1 Genes DMD

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG81	NGS	Neurology	28	+ Show Genes × 1 Genes DYSF

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

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MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG82	MLPA	Neurology	21	+ Show Genes × 1 Genes DYSF

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG83	NGS	Neurology	28	+ Show Genes × 139 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG84	NGS	Neurology	28	+ Show Genes × 1 Genes KMT2B

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG85	MLPA	Neurology	21	+ Show Genes × 1 Genes STXBP1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG86	NGS	Neurology	28	+ Show Genes × 14 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG87	NGS	Neurology	28	+ Show Genes × 6 Genes EMD LMNA SYNE1 SYNE2 FHL1 TMEM43

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG88	NGS	Neurology	28	+ Show Genes × 119 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG89	NGS	Neurology	28	+ Show Genes × 4 Genes CACNA1A CACNB4 KCNA1 SLC1A3

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG90	NGS	Neurology	28	+ Show Genes × 31 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG91	NGS	Neurology	28	+ Show Genes × 4 Genes ATP1A2 CACNA1A PRRT2 SCN1A

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG92	NGS	Neurology	28	+ Show Genes × 1 Genes LGI1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG93	Fragment Analysis	Neurology	28	+ Show Genes × 1 Genes FXN

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG94	NGS	Neurology	28	+ Show Genes × 1 Genes FKTN

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG95	NGS	Neurology	28	+ Show Genes × 1 Genes GAN and DCAF8

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG96	NGS	Neurology	28	+ Show Genes × 1 Genes GBE1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG97	NGS	Neurology	28	+ Show Genes × 1 Genes GCH1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG98	NGS	Neurology	28	+ Show Genes × 1 Genes GAN

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG99	NGS	Neurology	28	+ Show Genes × 1 Genes RNF216 and OTUD4

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG100	NGS	Neurology	28	+ Show Genes × 1 Genes FUS and TENM4

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG101	NGS	Neurology	28	+ Show Genes × 70 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG102	NGS	Neurology	28	+ Show Genes × 1 Genes HINT1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG103	NGS	Neurology	28	+ Show Genes × 14 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG104	Fragment Analysis	Neurology	28	+ Show Genes × 1 Genes HTT

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG105	NGS	Neurology	28	+ Show Genes × 4 Genes ARHGEF9 GLRA1 GLRB SLC6A5

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG106	NGS	Neurology	28	+ Show Genes × 33 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG107	NGS	Neurology	28	+ Show Genes × 35 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG108	NGS	Neurology	28	+ Show Genes × 1 Genes IGHMBP2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG109	NGS	Neurology	28	+ Show Genes × 32 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG110	NGS	Neurology	28	+ Show Genes × 1 Genes KCNT1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG111	MLPA	Neurology	28	+ Show Genes × 1 Genes GALC

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG112	NGS	Neurology	21	+ Show Genes × 1 Genes GALC

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG113	NGS	Neurology	28	+ Show Genes × 212 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG114	NGS	Neurology	28	+ Show Genes × 43 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG116	NGS	Neurology	28	+ Show Genes × 53 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG117	NGS	Neurology	21	+ Show Genes × 112 Genes 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG118	NGS	Neurology	26	+ Show Genes × 1 Genes MECP2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG119	NGS	Neurology	28	+ Show Genes × 42 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG120	NGS	Neurology	21	+ Show Genes × 129 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG121	NGS	Neurology	28	+ Show Genes × 2 Genes ARSA PSAP

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG122	NGS	Neurology	21	+ Show Genes × 1 Genes MFSD8

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG123	NGS	Neurology	28	+ Show Genes × 79 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG124	NGS	Neurology	28	+ Show Genes × 72 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG125	NGS	Neurology	28	+ Show Genes × 83 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG126	NGS	Neurology	28	+ Show Genes × 1 Genes MYH3

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG127	MLPA	Neurology	21	+ Show Genes × 1 Genes CLCN1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG128	NGS	Neurology	28	+ Show Genes × 2 Genes CLCN1 SCN4A

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG129	NGS	Neurology	28	+ Show Genes × 32 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG130	NGS	Neurology	28	+ Show Genes × 1 Genes NDUFS7

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG131	NGS	Neurology	28	+ Show Genes × 10 Genes ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3 NEB TNNT1 TPM2 TPM3

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG132	NGS	Neurology	28	+ Show Genes × 1 Genes FOLR1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG133	MLPA	Neurology	21	+ Show Genes × 1 Genes PLA2G6

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG134	NGS	Neurology	28	+ Show Genes × 10 Genes ATP13A2 COASY C19orf12 CP DCAF17 FA2H FTL PANK2 PLA2G6 WDR45

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG135	NGS	Neurology	28	+ Show Genes × 2 Genes NF1 NF2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG136	MLPA	Neurology	21	+ Show Genes × 1 Genes NF1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG137	NGS	Neurology	28	+ Show Genes × 1 Genes NF1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG138	MLPA	Neurology	21	+ Show Genes × 1 Genes NF1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG139	NGS	Neurology	28	+ Show Genes × 1 Genes NF2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG140	NGS	Neurology	28	+ Show Genes × 13 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG141	NGS	Neurology	28	+ Show Genes × 58 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG142	NGS	Neurology	28	+ Show Genes × 39 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG143	NGS	Neurology	28	+ Show Genes × 53 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG144	NGS	Neurology	28	+ Show Genes × 1 Genes NKX2-1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG145	NGS	Neurology	28	+ Show Genes × 1 Genes CADASIL

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG146	NGS	Neurology	28	+ Show Genes × 1 Genes PANK2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG147	MLPA	Neurology	21	+ Show Genes × 1 Genes PANK2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG148	NGS	Neurology	28	+ Show Genes × 83 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG149	NGS	Neurology	28	+ Show Genes × 7 Genes ATP1A2 CACNA1S KCNJ2 MCM3AP RYR1 SCN4A

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG150	NGS	Neurology	28	+ Show Genes × 1 Genes PIEZO2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG151	NGS	Neurology	28	+ Show Genes × 1 Genes PLP1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG152	MLPA	Neurology	21	+ Show Genes × 1 Genes PMP22

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG153	NGS	Neurology	28	+ Show Genes × 1 Genes PMP22

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG154	NGS	Neurology	28	+ Show Genes × 18 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG155	NGS	Neurology	28	+ Show Genes × 17 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG156	NGS	Neurology	28	+ Show Genes × 10 Genes ALAD ALAS2 CLPX CPOX FECH GATA1 HMBS PPOX UROD UROS

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG157	MLPA	Neurology	21	+ Show Genes × 1 Genes PRKN

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG158	NGS	Neurology	28	+ Show Genes × 1 Genes PRKRA

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG159	NGS	Neurology	28	+ Show Genes × 28 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG160	NGS	Neurology	28	+ Show Genes × 1 Genes PSEN1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG161	NGS	Neurology	28	+ Show Genes × 1 Genes ALDH7A1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG162	NGS	Neurology	28	+ Show Genes × 1 Genes RANBP2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG163	MLPA	Neurology	21	+ Show Genes × 1 Genes MECP2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG164	NGS	Neurology	28	+ Show Genes × 4 Genes CDKL5 FOXG1 MECP2 MEF2C

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG165	NGS	Neurology	28	+ Show Genes × 1 Genes RSRC1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG166	NGS	Neurology	28	+ Show Genes × 1 Genes SACS

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG167	NGS	Neurology	28	+ Show Genes × 1 Genes HEXB

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG168	NGS	Neurology	28	+ Show Genes × 8 Genes GLI2 HESX1 HK1 OTX2 PAX6 PROP1 SOX2 SOX3

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG169	NGS	Neurology	28	+ Show Genes × 1 Genes SETX

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG170	MLPA	Neurology	21	+ Show Genes × 1 Genes SMN and NAIP

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG171	NGS	Neurology	28	+ Show Genes × 106 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG172	Sanger Sequencing	Neurology		+ Show Genes × 1 Genes SMN1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG173	MLPA	Neurology	21	+ Show Genes × 2 Genes SMN1 SMN2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG174	NGS	Neurology	28	+ Show Genes × 20 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG175	Fragment Analysis	Neurology		+ Show Genes × 1 Genes ATXN1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG176	Fragment Analysis	Neurology		+ Show Genes × 1 Genes PPP2R2B

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG177	Fragment Analysis	Neurology		+ Show Genes × 1 Genes ATXN2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG178	Fragment Analysis	Neurology		+ Show Genes × 1 Genes ATXN3

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG179	Fragment Analysis	Neurology		+ Show Genes × 1 Genes CACNA1A

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG180	Fragment Analysis	Neurology		+ Show Genes × 1 Genes ATXN7

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG181	Fragment Analysis	Neurology		+ Show Genes × 6 Genes ATXN1 ATXN2 ATXN3 CACNA1A ATXN7 PPP2R2B

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG182	NGS	Neurology	28	+ Show Genes × 1 Genes SPTBN2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG183	MLPA	Neurology	21	+ Show Genes × 1 Genes HEXA

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG184	NGS	Neurology	28	+ Show Genes × 1 Genes HEXA

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG185	NGS	Neurology	28	+ Show Genes × 1 Genes TBC1D24

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG186	NGS	Neurology	28	+ Show Genes × 1 Genes TCF4

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG187	NGS	Neurology	28	+ Show Genes × 1 Genes TIA1 and DES

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG188	NGS	Neurology	28	+ Show Genes × 2 Genes TSC1 TSC2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG189	MLPA	Neurology	21	+ Show Genes × 1 Genes TSC1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG190	MLPA	Neurology	21	+ Show Genes × 1 Genes TSC2

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG191	MLPA	Neurology	21	+ Show Genes × 1 Genes ABCD1

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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG192	NGS	Neurology	28	+ Show Genes × 141 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

---

MHL Testcode	Methodology	Disease Segment	TAT	Key genes
GG193	MLPA	Neurology	21	+ Show Genes × 1 Genes PLP1

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

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