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Neurology/Mitochondrial Genetics

Genetic Testing for Neurological Disorders

 

Next-Gen Sequence Analysis and Exon-level Deletion/Duplication Analysis

 

Test Available Genes More Information
Whole Genome Array (GenomeDx) Cytogenetics
FMR1 CGG Repeat Analysis FMR1 (Fragile X Syndrome)
Autism/ID Xpanded Panel (~2000 Genes) NEW ~2000 Genes. The gene list for this test is routinely updated to include more genes. Please see gene list PDF under the ‘More Information’ column for the most up to date gene list. 
 
 
 

 

Test Available Genes More Information
EpiXpanded Panel (1000+ Genes) 1000+ Genes. The gene list for this test is routinely updated to include more genes. Please see gene list PDF under the ‘More Information’ column for the most up to date gene list. 
 
 
 
 
Epilepsy Del/Dup Panel (95 Genes) NEW ADSL, ALDH7A1, ALG13, ARHGEF9, ARID1B, ARX, ATP1A2, ATP6AP2, ATRX, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CSTB, CTSD, DNAJC5, DYRK1A, EEF1A2, EHMT1, EPM2A, FOLR1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NR2F1, NRXN1, OPHN1, PCDH19, PHF6, PIGA, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC9A6, SMC1A, SPTAN1, STXBP1, SYNGAP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2  Test Info Sheet
Comprehensive Epilepsy Panel (87 Genes) ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DNAJC5, DNM1, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
STAT Epilepsy Panel (22 Genes) ALDH7A1, ARX, CDKL5, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, MEF2C, PCDH19, PNPO, POLG, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SPTAN1, STXBP1, TSC1, TSC2
Infantile Epilepsy Panel (75 Genes) ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DNM1, DYRK1A, EEF1A2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRRT2, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
Childhood Epilepsy Panel (58 Genes)

ADSL, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A8, SLC9A6, TBC1D24, TCF4, TPP1 (CLN2), UBE3A, WDR45, ZEB2

Progressive Myoclonic Epilepsy Panel (17 Genes)  CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, DNAJC5, EPM2A, FOLR1, GOSR2, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1
Rett/Angelman Syndrome Panel (12 Genes) CDKL5, CNTNAP2, FOXG1, MBD5, MECP2, MEF2C, NRXN1, SLC9A6, TCF4, UBE3A, WDR45, ZEB2
Tuberous Sclerosis Panel (2 Genes) TSC1 and TSC2
Comprehensive Brain Malformations Panel (93 Genes) ACTB, ACTG1, ADGRG1, AHI1, AKT3, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, B9D1, C5orf42, CASK, CC2D2A, CCND2, CEP290, CEP41, CHMP1A, CLP1, CSPP1, CUL4B, DCX, DYNC1H1 , ERMARD, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KIAA1279 (KIF1BP), KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE, MKS1, NDE1, NPHP1, NPHP3, OCLN, OFD1 (CXORF5), OPHN1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62
Cortical Brain Malformations Panel (56 Genes) ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, CCND2, CUL4B, DCX, DYNC1H1 , ERMARD, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, ISPD, KIAA1279 (KIF1BP), KIF2A, KIF5C, LAMB1, LAMC3, LARGE, NDE1, OCLN, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SRD5A3, SRPX2, TBC1D20, TMEM5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, WDR62
Pontocerebellar Hypoplasia Panel (18 Genes) CASK, CHMP1A, CLP1, EXOSC3, OPHN1, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1
Joubert Syndrome and Related Disorders Panel (25 Genes) AHI1, ARL13B, B9D1, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, IFT172, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1 (CXORF5), RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B
Lissencephaly Panel (24 Genes)NEW ACTB, ACTG1, ARX, ATP6V0A2, B3GALNT2, B3GNT1, DCX, FKRP, FKTN, GMPPB, ISPD, LAMB1, LARGE, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, TMEM5, TUBA1A, VLDLR, WDR62
Microcephaly Xpanded Panel NEW ~800 Genes. The gene list for this test is routinely updated to include more genes. Please see gene list PDF under the ‘More Information’ column for the most up to date gene list.
 
 
 
Microcephaly Panel (28 Genes) ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, IER3IP1, MCPH1, MECP2, MYCN, NIPBL, PCNT, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, SLC25A19, SLC9A6, STIL, TCF4, TUBB3, UBE3A, WDR62, ZEB2
Syndromic Macrocephaly/Overgrowth Syndromes Panel (11 Genes) CUL4B, EZH2, GLI3, GPC3, MED12, NFIX, NSD1, PHF6, PTCH1, PTEN, UPF3B

Neuromuscular Disorder Testing

 

Test Name Gene(s) More Information
Hereditary Neuropathy Panel AARS, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, HINT1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1 (C2ORF23), SBF2, SCN9A, SH3TC2, SLC12A6, SLC52A2, SPTLC1, SPTLC2, TFG, TRPV4, TTR, WNK1, YARS Test Info Sheet
Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) and Charcot-Marie-Tooth 1A (CMT1A) PMP22 Del/Dup Test Info Sheet
Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) and Charcot-Marie-Tooth 1E (CMT1E) PMP22 Gene Sequencing  Test Info Sheet
Core CMT Panel GJB1, MFN2, MPZ, PMP22  Test Info Sheet
Axonal CMT Panel AARS, BSCL2, DNM2, DYNC1H1, GARS, GDAP1 , GJB1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, LMNA, LRSAM1, MFN2, MPZ, NEFL, PRPS1, RAB7A, TRPV4, YARS  Test Info Sheet
Demyelinating CMT Panel DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1, INF2, LITAF, MFN2, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2, YARS  Test Info Sheet
Duchenne/Becker Muscular Dystrophy DMD Del/Dup  Test Info Sheet
Duchenne/Becker Muscular Dystrophy DMD Gene Sequencing  Test Info Sheet
Neuromuscular Disorders Panel (80 Genes) ACTA1, ANO5, ATP2A1, B3GALNT2, B3GNT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHKB, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2 , DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, LAMA2, LAMP2, LARGE, LDB3 (ZASP), LMNA, MEGF10, MTM1, MYH7, MYOT, NEB, PHKA1, PLEC, PLEKHG5 , POMGNT1, POMT1, POMT2, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4 , TTN, UBA1, VRK1  Test Info Sheet
Limb-Girdle Muscular Dystrophy Panel (24 Genes) ANO5, CAPN3, CAV3, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, GAA, GMPPB, LMNA, MYOT, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRIM32, TTN  Test Info Sheet
Syndromic Congenital Muscular Dystrophy Panel (18 Genes) B3GALNT2, B3GNT1, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, ISPD, ITGA7, LARGE, LMNA, POMGNT1, POMT1, POMT2, TMEM5, VRK1  Test Info Sheet
Congenital Myopathies & Muscular Dystrophies Panel (22 Genes) ACTA1, BICD2, CFL2, CHKB, COL6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, KBTBD13, LAMA2, LMNA, MEGF10, MTM1, NEB, RYR1, SEPN1, SYNE1, TNNT1, TPM2, TPM3  Test Info Sheet
Myofibrillar Myopathy Panel (8 Genes) BAG3 , CRYAB , DES, DNAJB6, FHL1, FLNC, LDB3, MYOT  Test Info Sheet
Congenital Myasthenia Syndromes Panel (14 Genes)New AGRN, ALG2, CHAT , CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, MUSK, RAPSN, SCN4A  Test Info Sheet
DMPK Repeat Analysis (Myotonic Dystrophy 1 (DM1) DMPK  Test Info Sheet
DM1 (DMPK) Southern Blot Analysis* (available only if DMPK repeat analysis is positive) DMPK  Test Info Sheet
CNBP Repeat Analysis (Myotonic Dystrophy 2 (DM2) CNBP  Test Info Sheet
PABPN1 Repeat Analysis (Oculopharyngeal Muscular Dystrophy) PABPN1  Test Info Sheet
AR Repeat Analysis (Spinal & Bulbar Muscular Atrophy) AR  Test Info Sheet
Comprehensive Hereditary Spastic Paraplegia Panel (36 genes) NEW AP4B1, AP4E1, AP4M1, AP4S1, ATL1, B4GALNT1, BSCL2 , C12ORF65, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, KIAA0196, KIF1A , KIF1C, KIF5A, L1CAM, NIPA1, NT5C2, PLP1, PNPLA6, REEP1 (C2ORF23), RTN2, SLC16A2, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, VPS37A, ZFYVE26  Test Info Sheet
Uncomplicated Hereditary Spastic Paraplegia Panel (11 Genes) NEW ATL1, CYP7B1, KIAA0196, KIF1A , KIF5A, NIPA1, REEP1 (C2ORF23), RTN2, SPAST, SPG11, SPG7  Test Info Sheet
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel (14 Genes) NEW ABCD1, ARG1, ARSA, BTD, CYP27A1, GALC, GBE1, GCH1, MMACHC, MTHFR, OPA3, PTS, SPR, TH  Test Info Sheet

Physician Guide   Patient Guide     

Testing of the Mitochondrial Genome and Nuclear Genes

Test Name Genes / Mutations Included More Information
Combined Mito Genome Plus Mito Nuclear Genes Full mitochondrial genome (including non-specific phenotypes, and MELAS, MERRF, NARP, LHON, MIDD, MICM, LS, KSS, CPEO, Pearson syndrome etc.) PLUS 319 nuclear genes (AARS, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2, ACSF3, ADCK3 (CABC1; COQ8), ADCK4, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APOPT1, APTX, ARG1, ASL, ASS1, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2 (ATP12), AUH, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, C19ORF12, CA5A, CARS2, CHKB, CISD2, CLPB, COA5 (C2ORF64), COA6, COASY, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX4I2, COX6A1, COX6B1, COX7B, CPS1, CPT1A, CPT2, CYC1, DARS, DARS2, DBT, DDHD1, DDHD2, DDOST, DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2 , DOLK, DPAGT1, DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, G6PC, GAA, GAMT, GARS, GATM, GBE1, GCDH, GFER, GFM1 (EFG1), GFM2, GLRX5, GMPPA, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2, LARS, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MOGS, MPC1 (BRP44L), MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRR, MUT, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS, RANBP2, RARS, RARS2, REEP1 (C2ORF23), RFT1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3 (PHC), SLC25A38, SLC25A4, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC6A8, SLC7A7, SPAST, SPG7, SPTLC1, SRD5A3, SSR4, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM126A, TMEM165, TMEM70, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2 , UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2)

Testing of the Mitochondrial Genome (mtDNA)

Test Name Genes / Mutations Included More Information
Next-Generation Sequence Analysis and Deletion Testing of the Entire Mitochondrial Genome Full mitochondrial genome (including non-specific phenotypes, and MELAS, MERRF, NARP, LHON, MIDD, MICM, LS, KSS, CPEO, Pearson syndrome etc.)
58 Confirmed Disease-Causing mtDNA Point Mutations and Deletion Testing 58 confirmed disease-causing mtDNA point mutations (see list in Test Info Sheet) and large scale deletion analysis of the mitochondrial genome (including LHON [18 mutations], MELAS [13 mutations], LS/NARP [22 mutations], MIHL/MIDM [10 mutations)] MERRF [6 mutations], KSS, CPEO, Pearson syndrome, etc.)
Large scale deletion/duplication analysis of the mitochondrial genome

 

Testing of Nuclear Genes Important for Normal Mitochondrial Function

Test Name Genes / Mutations Included More Information
Comprehensive Mitochondrial Nuclear Gene Panel (319 genes) AARS, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2, ACSF3, ADCK3 (CABC1; COQ8), ADCK4, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APOPT1, APTX, ARG1, ASL, ASS1, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2 (ATP12), AUH, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, C19ORF12, CA5A, CARS2, CHKB, CISD2, CLPB, COA5 (C2ORF64), COA6, COASY, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX4I2, COX6A1, COX6B1, COX7B, CPS1, CPT1A, CPT2, CYC1, DARS, DARS2, DBT, DDHD1, DDHD2, DDOST, DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2 , DOLK, DPAGT1, DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, G6PC, GAA, GAMT, GARS, GATM, GBE1, GCDH, GFER, GFM1 (EFG1), GFM2, GLRX5, GMPPA, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2, LARS, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MOGS, MPC1 (BRP44L), MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRR, MUT, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS, RANBP2, RARS, RARS2, REEP1 (C2ORF23), RFT1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3 (PHC), SLC25A38, SLC25A4, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC6A8, SLC7A7, SPAST, SPG7, SPTLC1, SRD5A3, SSR4, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM126A, TMEM165, TMEM70, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2 , UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
Mitochondrial Encephalopathy/Leigh Syndrome Nuclear Gene Panel (146 genes) AARS2, ACAD9, ACO2, ADCK3 (CABC1; COQ8), AFG3L2, AIFM1, APOPT1, APTX, ATP5A1, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, BOLA3, C10ORF2, C12ORF65, CA5A, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX6B1, CPT1A, CPT2, CYC1, DARS, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FOXRED1, GCDH, GFER, GFM1 (EFG1), GFM2, GTPBP3, GYG2, HIBCH, HLCS, HSPD1, IARS2, IBA57, ISCA2, LARS2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MFN2, MPC1 (BRP44L), MPV17, MRPL44, MRPS22, MTFMT, MTPAP, NADK2, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, RANBP2, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC22A5, SLC25A1, SLC25A15, SLC25A19, SLC25A22, SLC35A2, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCC2 , UQCC3, UQCRQ, VARS2
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel (153 genes) ACAD9, ADCK3 (CABC1; COQ8), AGK, AGL, AIFM1, ALDOB, ATP5E, ATPAF2 (ATP12), B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, CA5A, CARS2, COG4, COG8, COQ2, COQ4, COQ9, COX10, COX14 (C12ORF62), COX15, COX6B1, CYC1, DARS2, DBT, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBP1, FBXL4, FDX1L, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GTPBP3, GYG2, GYS2, HADHA, HADHB, HIBCH, HLCS, HMGCS2, HSD17B10, HSPD1, IBA57, ISCU, LARS, LARS2, LDHA, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MARS, MFF, MLYCD, MPC1 (BRP44L), MPV17, MRPL12, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, NADK2, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF3 (C3ORF60), NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFS1, NFU1, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PFKM, PHKG2, PNPT1, POLG, POLG2, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO2, SDHAF1, SERAC1, SFXN4, SLC25A13, SLC25A19, SLC25A3 (PHC), SLC25A4, SLC2A2, SLC35A2, SLC37A4, SLC7A7, SUCLA2, SUCLG1, SURF1, TARS2, TAZ, TK2, TMEM70, TPK1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2 , UQCC3, UQCRB, UQCRC2, UQCRQ, YARS2
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel (55 genes)
ACO2, ALG13, ALG3, APTX, AUH, C10ORF2, C12ORF65, CISD2, CLPB, COX7B, DARS, DDHD2, DGUOK, DNA2, DNAJC19, DNM1L, DPM1, EARS2, FH, GYG2, ISCA2, MCEE, MFF, MFN2, MGME1, MOGS, MTFMT, MTO1, MTPAP, NARS2, NDUFAF3 (C3ORF60), NR2F1, OPA1, OPA3, PDHX, PDSS1, POLG, POLG2, PRPS1, RRM2B, SLC19A2, SLC19A3, SLC25A4, SPG7, SRD5A3, STT3B, SUCLA2, TACO1, TIMM8A, TK2, TMEM126A, TSFM, TYMP, VARS2, WFS1
Methylglutaconic Aciduria Nuclear Gene Panel (13 genes) AGK, ATP5E, ATPAF2 (ATP12), AUH, CLPB, DNAJC19, HMGCL, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70
POLG Sequence Analysis POLG
PUS1 Sequence Analysis in Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA) PUS1
SDHA Sequence Analysis in Mitochondrial Complex II Deficiency (MT-C2D) SDHA Test Info Sheet
Disorder Name Gene(s) More Information
Carnitine Palmitoyltransferase II Deficiency CPT2 Sequencing Test Info Sheet
Cobalamin C Deficiency MMACHC Sequencing
Dopa-responsive Dystonia GCH1 Sequencing and Del/Dup
TH Sequencing
Fabry Disease GLA Sequencing
Fatty Acid Oxidation Disorders Next-Gen Sequencing Panel of 15 Genes & Reflex to Del/Dup Test Info Sheet
Hyperammonemia Related Disorders / Urea Cycle Disorders Next-Gen Sequencing Panel of 44 Genes & Reflex to Del/Dup Test Info Sheet
Krabbe Disease
GALC Sequencing and Del/Dup
Methylmalonic Acidemia / Cobalamin Metabolism and Related Disorders Next-Gen Sequencing Panel of 16 Genes & Reflex to Del/Dup Test Info Sheet
Mucolipidosis IV MCOLN1 Sequencing
Neuronal Ceroid-Lipofuscinosis 2 (CLN2) TPP1 Sequencing Test Info Sheet
Niemann-Pick Disease Type A & B SMPD1 Sequencing
Niemann-Pick Disease Type C NPC1, NPC2 Sequencing
Ornithine Transcarbamylase Deficiency OTC Sequencing and Del/Dup analysis in females/OTC Sequencing only in males
Smith-Lemli-Opitz Syndrome DHCR7 Sequencing
Tay-Sachs Disease HEXA Sequencing
Trifunctional Protein Deficiency HADHA and HADHB Sequencing Test Info Sheet
VLCAD Deficiency ACADVL Sequencing

Neurofibromatosis Testing NEW

Disorder Name Gene(s) More Information
Neurofibromatosis, Type 1 NF1, SPRED1 sequencing and del/dup Test Info Sheet
Neurofibromatosis, Type 2 NF2, SMARCB1 sequencing and del/dup  Test Info Sheet
Neurofibromatosis NF1, NF2, SPRED1, SMARCB1 sequencing & del/dup  Test Info Sheet

Other Neurological Disorders

Disorder Name Gene(s)  More Information
Aicardi-Goutieres Syndrome TREX1, RNASEH2A, RNASEH2B, RNASEH2C Sequencing

 

Alexander Disease GFAP sequencing
AAAS sequencing
Angelman Syndrome UBE3A Sequencing and Del/Dup
Angelman Syndrome Angelman Syndrome Methylation Analysis Test Info Sheet
Angelman-Like Syndrome / Christianson Syndrome
SLC9A6 sequencing
Atypical Rett Syndrome / Infantile Spasms / West Syndrome CDKL5 Sequencing and Del/Dup
Autism / Intellectual Disability Whole-genome array CGH
Cerebral Cavernous Malformations KRIT1, CCM2, PDCD10 Sequencing and Del/Dup
Coffin-Lowry Syndrome RPS6KA3 Sequencing and Del/Dup
Cohen Syndrome VPS13B Sequencing
Congenital Insensitivity to Pain and Anhidrosis NTRK1 Sequencing
Cornelia de Lange Syndrome NIPBL, SMC1A Sequencing and Del/Dup Test Info Sheet
Erythromelalgia, Small Fiber Neuropathy SCN9A Sequencing Test Info Sheet
Fragile X Syndrome FMR1 CGG repeat analysis
Gorlin Syndrome  PTCH1 sequencing and del/dup
Hereditary Inclusion Body Myopathy Targeted testing for M712T mutation in GNE
Holoprosencephaly SHH, ZIC2, SIX3,TGIF Sequencing and Del/Dup
Incontinentia Pigmenti IKBKG [NEMO] common deletion assay and sequencing for females only
KBG Syndrome ANKRD11 Sequencing Test Info Sheet
Nemaline Myopathy
ACTA1 sequencing and Ashkenazi Jewish founder mutation in NEB gene
Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions PRRT2 Sequencing Test Info Sheet
Prader-Willi Syndrome Prader-Willi Syndrome Methylation Analysis Test Info Sheet
PTEN-Related Disorders PTEN Sequencing and Del/Dup
Rett Syndorme / Atypical Rett Syndrome
MECP2 Sequencing and Del/Dup
Rubinstein-Taybi Syndorme CREBBP Sequencing and Del/Dup
Septo-Optic Dysplasia HESX1 Sequencing
Simpson-Golabi-Behmel Syndrome GPC3 Sequencing and Del/Dup in females / Sequencing only in males
Smith-Magenis Syndrome RAI1 Sequencing and Intragenic Del/Dup
Spinal Muscular Atrophy with Respiratory Distress, Type 1 IGHMBP2 Sequencing
Sotos Syndrome NSD1 Sequencing and Del/Dup
X-Linked Hydrocephalus / X-Linked Spastic Paraplegia / MASA / CRASH Syndrome L1CAM Sequencing and Del/Dup

 

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