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
| Test Available | Genes | More Information |
| Comprehensive Epilepsy Panel (53 Genes) | ADSL, ALDH7A1, ARX, ATP1A2, ATP6AP2, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, EFHC1, EPM2A, FOXG1, GABRA1, GABRG2, GAMT, GATM, KCNQ2, KCNQ3, LGI1, MECP2, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, PNPO, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRPX2, STXBP1 , SYN1 , TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2 |
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| Infantile Epilepsy Panel (38 Genes) | ADSL, ALDH7A1, ARX, ATP6AP2, CDKL5, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, FOXG1, GABRG2, GAMT, KCNQ2, KCNQ3, MECP2, MFSD8, NRXN1, PCDH19, PNKP, PNPO, POLG, PPT1, SCN1A, SCN1B, SCN2A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2 |
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| Childhood Epilepsy Panel (40 Genes) | ADSL, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, EFHC1, EPM2A, FOXG1, GABRA1, GABRG2, GAMT, GATM, LGI1, MECP2, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, SYN1, TCF4, TPP1, UBE3A, ZEB2 |
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| Adolescent Epilepsy Panel (21 Genes) | ADSL, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN8, CSTB, CTSD, EFHC1, EPM2A, GABRA1, LGI1, NHLRC1, POLG, PPT1, PRICKLE1, SLC2A1, SYN1, TPP1 |
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| Progressive Myoclonic Epilepsy Panel (12 Genes) | CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, EPM2A, MFSD8, NHLRC1, PPT1, PRICKLE1, TPP1 |
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| Whole Genome Array | Cytogenetics |  Test Info Sheet
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Testing of the Mitochondrial Genome (mtDNA)
Physician Guide Patient Guide MitoArray Diosrder Table
| 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.) |
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| 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.) |
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| Mitochondrial Depletion/Over-Replication Analysis | Full mitochondrial genome | |
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Large scale deletion/duplication analysis of the mitochondrial genome
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Testing of Nuclear Genes Important for Normal Mitochondrial Function
| Test Name | Genes / Mutations Included | More Information |
| Comprehensive Mitochondrial Nuclear Gene Panel (101 genes) | AARS2, ABCB7, ACAD9, ADCK3 (CABC1; COQ8), AIFM1, ALAS2, APTX, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, C10ORF2 , C12ORF65, C20ORF7, C8ORF38, CISD2, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FBP1, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GYS2, ISCU, LRPPRC, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OPA3, PC , PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, POLG2, PUS1, RARS2, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SLC25A3 (PHC), SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM8A, TK2, TMEM126A, TMEM70, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, WFS1, YARS2 |
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| Oxidative Phosphorylation (OXPHOS) Deficiency Nuclear Gene Panel (81 genes) |
AARS2, ACAD9, ADCK3 (CABC1; COQ8), AIFM1, APTX, ATP5E, ATPAF2 (ATP12), BCS1L, C10ORF2 , C12ORF65, C20ORF7, C8ORF38, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FOXRED1, GFER, GFM1 (EFG1), ISCU, LRPPRC, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OPA3, PDSS1, PDSS2, POLG, POLG2, PUS1, RARS2, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SLC25A3 (PHC), SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TK2, TMEM70, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, YARS2
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| ACAD9, ADCK3 (CABC1; COQ8), AIFM1, APTX, ATPAF2 (ATP12), BCS1L, C10ORF2 , C8ORF38, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1 (EFG1), LRPPRC, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF4 (C6ORF66), NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, PC , PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, RARS2, SCO1, SCO2, SDHAF1, SUCLA2, SUCLG1, SURF1, TACO1, TK2, TMEM70, TSFM, TTC19, TUFM, TYMP | ||
| Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel (69 genes) | ACAD9, ADCK3 (CABC1; COQ8), APTX, ATP5E, ATPAF2 (ATP12), BCS1L, C20ORF7, C8ORF38, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, FOXRED1, G6PC, GFM1 (EFG1), GYS2, ISCU, LRPPRC, MRPS16, MRPS22, NDUFA11, NDUFAF1, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, PC , PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PUS1, RRM2B, SCO2, SLC25A3 (PHC), SLC25A4, SUCLA2, SUCLG1, SURF1, TAZ, TK2, TMEM70, TRMU, TSFM, TUFM, TYMP, UQCRB, YARS2 | |
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AUH, C10ORF2 , C12ORF65, CISD2, NDUFS1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4, SPG7, TIMM8A, TMEM126A, TYMP, WFS1
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| Mitochondrial Complex I Deficiency Nuclear Gene Panel (24 genes) | ACAD9, C20ORF7, C8ORF38, FOXRED1, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, POLG2, SUCLA2 | Test Info Sheet |
| Mitochondrial Complex IV Deficiency Nuclear Gene Panel (14 genes) | COX10, COX15, COX6B1, ETHE1, FASTKD2, LRPPRC, OPA1, OPA3, POLG, SCO1, SCO2, SPG7, SURF1, TACO1 | Test Info Sheet |
| CoEnzyme Q10 Deficiency Nuclear Gene Panel (7 genes) | ADCK3 (CABC1; COQ8), APTX, COQ2, COQ9, ETFDH, PDSS1, PDSS2 | Test Info Sheet |
| MtDNA Depletion/Multiple Deletions Nuclear Gene Panel (14 genes) |
APTX, C10ORF2 , DGUOK, MPV17, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP
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| ATP5E, ATPAF2 (ATP12), AUH, DNAJC19, OPA3, POLG, SUCLA2, TAZ, TMEM70 | ||
| 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 |
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| Fabry Disease | GLA Sequencing | |
| Krabbe Disease |
GALC Sequencing and Del/Dup
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| Mucolipidosis IV | MCOLN1 Sequencing |
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| Neuronal Ceroid-Lipofuscinosis 2 (CLN2) | TPP1 Sequencing | Test Info Sheet |
| Niemann-Pick Disease Type A & B | SMPD1 Sequencing |
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| Niemann-Pick Disease Type C | NPC1, NPC2 Sequencing |
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| Ornithine Transcarbamylase Deficiency | OTC Sequencing and Del/Dup analysis in females/OTC Sequencing only in males |
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| Smith-Lemli-Opitz Syndrome | DHCR7 Sequencing | |
| Tay-Sachs Disease | HEXA Sequencing |
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| Trifunctional Protein Deficiency | HADHA and HADHB Sequencing | Test Info Sheet |
| VLCAD Deficiency | ACADVL Sequencing |
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| Disorder Name | Gene(s) | More Information |
| Aicardi-Goutieres Syndrome | TREX1, RNASEH2A, RNASEH2B, RNASEH2C Sequencing |
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| Alexander Disease | GFAP sequencing | |
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Allgrove (Triple-A) Syndrome
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AAAS sequencing | |
| Angelman Syndrome | UBE3A Sequencing and Del/Dup |
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| Angelman Syndrome | Angelman Syndrome Methylation Analysis | Test Info Sheet |
| Angelman-Like Syndrome / Christianson Syndrome |
SLC9A6 sequencing
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| Atypical Rett Syndrome / Infantile Spasms / West Syndrome | CDKL5 Sequencing and Del/Dup |
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| Autism / Intellectual Disability | Whole-genome array CGH |
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| Cerebral Cavernous Malformations | KRIT1, CCM2, PCDC10 Sequencing and Del/Dup |
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| Coffin-Lowry Syndrome | RPS6KA3 Sequencing and Del/Dup |
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| Cohen Syndrome | VPS13B Sequencing |
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| Congenital Insensitivity to Pain and Anhidrosis | NTRK1 Sequencing |
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| 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 |
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| Gorlin Syndrome | PTCH1 sequencing and del/dup |
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| 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 |
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Nemaline Myopathy
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ACTA1 sequencing and Ashkenazi Jewish founder mutation in NEB gene |
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| 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 |
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| Rett Syndorme / Atypical Rett Syndrome |
MECP2 Sequencing and Del/Dup
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| Rubinstein-Taybi Syndorme | CREBBP Sequencing and Del/Dup |
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| Septo-Optic Dysplasia | HESX1 Sequencing |
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| Simpson-Golabi-Behmel Syndrome | GPC3 Sequencing and Del/Dup in females / Sequencing only in males |
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| Smith-Magenis Syndrome | RAI1 Sequencing and Intragenic Del/Dup |
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| Spinal Muscular Atrophy with Respiratory Distress, Type 1 | IGHMBP2 Sequencing |
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| Sotos Syndrome | NSD1 Sequencing and Del/Dup |
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| X-Linked Hydrocephalus / X-Linked Spastic Paraplegia / MASA / CRASH Syndrome | L1CAM Sequencing and Del/Dup |
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