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Neurology/Mitochondrial Genetics

Genetic Testing for Neurological Disorders

Neurodevelopmental disorders (NDDs) encompass a large group of clinical conditions with neurological, intellectual, cognitive, and behavioral impairments. Many of these disorders have overlapping clinical features, such as syndromic and non-syndromic intellectual disability, epilepsy, autism, and developmental delay. The etiology of these disorders is heterogeneous and complex. Genetic causes are found in 30% of individuals with intellectual disability, most individuals with idiopathic seizure disorders, and 10-20% of individuals with autism spectrum disorders. To aid in the diagnostic workup for NDD, GeneDx has developed a comprehensive genetic testing program.

 

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

Physician Guide   Patient Guide     Epilepsy LOMN

 
Test Available Genes More Information
Comprehensive Epilepsy Panel (70 Genes) ADSL, ALDH7A1, ARX, ATP1A2, ATP6AP2, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DNAJC5, EFHC1, EPM2A, FOXG1, FOLR1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A, GRIN2B, KANSL1, KCNJ10, KCNQ2, KCNQ3, KCTD7, LIAS, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRPX2, STXBP1 , SYN1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2
Infantile Epilepsy Panel (51 Genes) ADSL, ALDH7A1, ARX, ATP6AP2, CDKL5, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, FOLR1, FOXG1, GABRG2, GAMT, GRIN2A, KANSL1, KCNJ10, KCNQ2, KCNQ3, KCTD7, LIAS, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NRXN1, PCDH19, PNKP, PNPO, POLG, PPT1, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2
 
 
Childhood Epilepsy Panel (50 Genes) ADSL, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A, KANSL1, KCTD7, LGI1, MAGI2,MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, SYN1, TBC1D24, TCF4, TPP1, UBE3A, 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 (11 Genes) CDKL5, CNTAP2, FOXG1, MBD5, MECP2, MEF2C, NRXN1, SLC9A6, TCF4, UBE3A, ZEB2
 
 
Tuberous Sclerosis Panel (2 Genes) TSC1 and TSC2
 
 
Comprehensive Brain Malformations Panel (44 Genes) AHI1, ARFGEF2, ARX, CASK, CC2D2A, CEP290, CEP41, DCX, EOMES, FKRP, FKTN, FLNA, GPR56, INPP5E, KIF7, LAMC3, LARGE, MKS1, NDE1, NPHP1, OCLN, OPHN1, PAFAH1B1, POMGNT1, POMT1, POMT2, PQBP1, RARS2, RELN, RPGRIP1L, SRPX2, TMEM138, TMEM216, TMEM237, TMEM67, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VRK1 Test Info Sheet
Cortical Brain Malformations Panel (24 Genes) ARFGEF2, ARX, DCX, EOMES, FKRP, FKTN, FLNA, GPR56, LAMC3, LARGE, NDE1, OCLN, PAFAH1B1, POMGNT1, POMT1, POMT2, RELN, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR
 
Pontocerebellar Hypoplasia Panel (7 Genes) CASK, OPHN1, RARS2, TSEN2, TSEN34, TSEN54, VRK1 Test Info Sheet
Joubert Syndrome and Related Disorders Panel (13 Genes) AHI1, CC2D2A, CEP290, CEP41, INPP5E, KIF7, MKS1, NPHP1, RPGRIP1L, TMEM138, TMEM216, TMEM237, TMEM67
 
 
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 Test Info Sheet
Syndromic Macrocephaly/Overgrowth Syndromes Panel (11 Genes) CUL4B, EZH2, GLI3, GPC3, MED12, NFIX, NSD1, PHF6, PTCH1, PTEN, UPF3B
Whole Genome Array Cytogenetics Test Info Sheet

Neuromuscular Disorder Testing

 Physician Guide

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, HSPB1, HSPB8, IGHMBP2, IKBKAP, KIF1A, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF2, SCN9A, SH3TC2, SLC12A6, SPTLC1, SPTLC2, TFG, TRPV4, TTR, WNK1 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, HSPB1, HSPB8, LMNA, LRSAM1, MED25, MFN2, MPZ, NEFL, PRPS1, RAB7A, TRPV4  Test Info Sheet
Demyelinating CMT Panel DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1, LITAF, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2  Test Info Sheet
Duchenne/Becker Muscular Dystrophy DMD Del/Dup  Test Info Sheet
Duchenne/Becker Muscular Dystrophy DMD Gene Sequencing  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 139 nuclear genes (AARS2, ABCB7, ACAD9, ACO2, ADCK3 (CABC1; COQ8), AFG3L2, AGK, AIFM1, ALAS2, ALDH1B1, APTX, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, BOLA3, C10ORF2 , C12ORF65, C20ORF7, C8ORF38, CISD2, COA5, COQ2, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6B1, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GFM2, GYS2, HARS2, HLCS, HSPD1, ISCU, LARS, LIAS, LRPPRC, MARS2, MFN2, MPC1,  MPV17, MRPL44,  MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF7, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PC , PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PNPT1, POLG2, PUS1, RARS2, REEP1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SERAC1, SLC19A3, SLC25A3 (PHC), SLC25A4, SLC37A4, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM8A, TIMM44, TPK1, TK2, TMEM126A, TMEM70, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, 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 (139 genes) AARS2, ABCB7, ACAD9, ACO2, ADCK3 (CABC1; COQ8), AFG3L2, AGK, AIFM1, ALAS2, ALDH1B1, APTX, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, BOLA3, C10ORF2 , C12ORF65, C20ORF7, C8ORF38, CISD2, COA5, COQ2, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6B1, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GFM2, GYS2, HARS2, HLCS, HSPD1, ISCU, LARS, LIAS, LRPPRC, MARS2, MFN2, MPC1,  MPV17, MRPL44,  MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF7, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PC , PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PNPT1, POLG2, PUS1, RARS2, REEP1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SERAC1, SLC19A3, SLC25A3 (PHC), SLC25A4, SLC37A4, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM8A, TIMM44, TPK1, TK2, TMEM126A, TMEM70, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, WFS1, YARS2
 
 
Mitochondrial Encephalopathy/Leigh Syndrome Nuclear Gene Panel (88 genes) ACAD9, ACO2, ADCK3 (CABC1; COQ8), AFG3L2, AIFM1, APTX, ATPAF2 (ATP12), BCS1L, BOLA3,  C10ORF2 , C8ORF38, COQ2, COQ9, COX10, COX14, COX15, COX20, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GFER, GFM1 (EFG1), GFM2, HLCS, HSPD1, LIAS, LRPPRC, MARS2, MFN2, MPV17, MTFMT, MTPAP, NDUFA1, NDUFA2, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFAF2, NDUFAF4 (C6ORF66), NDUFAF7, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, PC , PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, RARS2, RMND1, SCO1, SCO1, SCO2, SDHAF1, SERAC1, SLC19A3, SUCLA2, SUCLG1, SURF1, TACO1, TIMM44, TK2, TMEM70, TPK1,  TSFM, TTC19, TUFM, TYMP
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel (85 genes) ACAD9, ADCK3 (CABC1; COQ8), AGK, APTX, ATP5E, ATPAF2 (ATP12), BCS1L, BOLA3, C20ORF7, C8ORF38, COQ2, COQ9, COX10,COX14, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, FARS2, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, G6PC, GFM1 (EFG1), GYS2, HLCS, ISCU, LIAS, LRPPRC, MPC1,  MRPS16, MRPS22, MTO1, NDUFA9,  NDUFA11, NDUFAF1, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFU1,  PC , PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PUS1, RMND1, RRM2B, SCO2, SERAC1, SLC25A3 (PHC), SLC25A4, SLC37A4, SUCLA2, SUCLG1, SURF1, TAZ, TIMM44, TK2, TMEM70, TPK1, TRMU, TSFM, TUFM, TYMP, UQCRB, YARS2
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel (21 genes)
ACO2, AUH, C10ORF2 , C12ORF65, CISD2, MFN2, MTPAP, NDUFS1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC19A3,  SLC25A4, SPG7, TIMM8A, TK2, TMEM126A, TYMP, WFS1
 
Mitochondrial Complex I Deficiency Nuclear Gene Panel (30 genes) ACAD9, C20ORF7, C8ORF38, FOXRED1, MTFMT, NDUFA1, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF7, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, POLG, SUCLA2 Test Info Sheet
Mitochondrial Complex IV Deficiency Nuclear Gene Panel (18 genes) COA5, COX10, COX14, COX15, COX20, COX6B1, ETHE1, FASTKD2, LRPPRC, OPA1, OPA3, POLG, RRM2B, SCO1, SCO2, SPG7, SURF1, TACO1 Test Info Sheet
CoEnzyme Q10 Deficiency Nuclear Gene Panel (8 genes) ADCK3 (CABC1; COQ8), APTX, COQ2, COQ6, COQ9, ETFDH, PDSS1, PDSS2 Test Info Sheet
MtDNA Depletion/Multiple Deletions Nuclear Gene Panel (16 genes)
AGK, APTX, C10ORF2 , DGUOK, MFN2,  MPV17, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP
Methylglutaconic Aciduria Nuclear Gene Panel (10 genes) ATP5E, ATPAF2 (ATP12), AUH, DNAJC19, 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 41 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 14 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
 
 
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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