Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a

Description

Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. The disorder is progressive and often leads to death from hepatic failure or status epilepticus before age 3 years (review by Milone and Massie, 2010).Some affected individuals may show mild intermittent 3-methylglutaconic aciduria and defects in mitochondrial oxidative phosphorylation (Wortmann et al., 2009).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).Neuropathologic changes characteristic of Alpers syndrome, namely laminar cortical necrosis, may also be seen in some patients with combined oxidative phosphorylation deficiency-14 (COXPD14 ), caused by mutation in the FARS2 gene (OMIM ), and COXPD24 (OMIM ), caused by mutation in the NARS2 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay
And another 95 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a have a estimated prevalence of 0.07 per 100k worldwide.


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Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
POLG Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

POLG
Specificity
100 %
Genes
100 %
POLG Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

POLG
Specificity
100 %
Genes
100 %
POLG Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

POLG
Specificity
100 %
Genes
100 %
POLG Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

POLG
Specificity
100 %
Genes
100 %
mtDNA Depletion/Integrity Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

SUCLG2, MGME1, SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, DGUOK, OPA3, RRM2B, SLC25A4, POLG, OPA1, TWNK
Specificity
7 %
Genes
100 %
PEO Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

MGME1, POLG2, OPA3, RRM2B, SLC25A4, POLG, OPA1, TWNK
Specificity
13 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).

By Athena Diagnostics Inc in United States.

MT-TL1, SLC25A4, POLG, OPA1, TWNK
Specificity
20 %
Genes
100 %
Mitochondrial Hepatoencephalopathic Evaluation (POLG, DGUOK, MPV17, TWINKLE).

By Athena Diagnostics Inc in United States.

MPV17, DGUOK, POLG, TWNK
Specificity
25 %
Genes
100 %
POLG DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

POLG
Specificity
100 %
Genes
100 %
Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP).

By Athena Diagnostics Inc in United States.

MT-ATP6, MT-TK, MT-TL1, POLG
Specificity
25 %
Genes
100 %
POLG DNA Sequencing Test (Alpers' Syndrome).

By Athena Diagnostics Inc in United States.

POLG
Specificity
100 %
Genes
100 %
Miochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG).

By Athena Diagnostics Inc in United States.

TK2, RRM2B, POLG
Specificity
34 %
Genes
100 %
MIRAS-Specific POLG1 DNA Test.

By Athena Diagnostics Inc in United States.

POLG
Specificity
100 %
Genes
100 %
Ataxia, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc in United States.

GRM1, SIL1, TDP1, ANO10, SYT14, SYNE1, SETX, TTPA, SACS, MRE11, ATM, APTX, FLVCR1, COQ8A, MTPAP, AFG3L2, POLG
Specificity
6 %
Genes
100 %
Ataxia, Complete Recessive Evaluation.

By Athena Diagnostics Inc in United States.

GRM1, SIL1, TDP1, ANO10, SYT14, SYNE1, SETX, TTPA, SACS, MRE11, ATM, APTX, FXN, FLVCR1, COQ8A, MTPAP, AFG3L2, POLG
Specificity
6 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine.

By Athena Diagnostics Inc in United States.

PRRT2, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
15 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
POLG1-related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

POLG
Specificity
100 %
Genes
100 %
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Mitochondrial Depletion Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DNA2, FBXL4, TFAM, MGME1, APTX, SUCLG1, MPV17, TYMP, SPG7, TK2, POLG2, SUCLA2, GFER, ABAT, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
POLG-Related Disorders - Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

POLG
Specificity
100 %
Genes
100 %
POLG-Related Disorders - Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

POLG
Specificity
100 %
Genes
100 %
Childhood Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG, MT-TP, SCO1, COX10 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Infantile Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Migraine and Strokes Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

HTRA1, COL4A1, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
13 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

VPS35, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, CSF1R, DCAF17, CP, FTL, ADAR, C19orf12, ERCC6 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Parkinson's Disease.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

VPS35, SLC6A3, FBXO7, CSF1R, TAF1, ATP13A2, ATP1A3, DCTN1, SNCA, LRRK2, GCH1, MAPT, PLA2G6, TH, GBA, PRKN, PINK1, PARK7, POLG
Specificity
6 %
Genes
100 %
Progressive External Opthalmoplegia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

POLG2, RRM2B, SLC25A4, POLG, OPA1, TWNK
Specificity
17 %
Genes
100 %
POLG1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

POLG
Specificity
100 %
Genes
100 %
POLG1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

POLG
Specificity
100 %
Genes
100 %
Early Infantile Epileptic Encephalopathy Panel.

By Genetic Services Laboratory University of Chicago in United States.

KCNH5, NECAP1, CLCN4, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, KCNA2, EEF1A2, CACNA2D2, ARFGEF2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

PPM1B, PREPL, HADH, MT-TA, MT-TW, MT-TY, MT-TV, MT-TL2, MT-TM, MT-TF, MT-TR, MT-TD, MT-TC, MT-TQ, MT-TH, MT-TE, MT-ND4L, MT-TN, MT-TI, MT-TG , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy Panel.

By GeneDx in United States.

ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
STAT Epilepsy Panel.

By GeneDx in United States.

SPTAN1, SCN8A, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SCN1A, SLC2A1, PCDH19, MEF2C, CDKL5, ARX, ALDH7A1, STXBP1, MECP2, POLG
Specificity
6 %
Genes
100 %
Infantile Epilepsy Panel.

By GeneDx in United States.

ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Childhood-Onset Epilepsy Panel.

By GeneDx in United States.

ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
CustomNext: Neuro.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
EpilepsyNext.

By Ambry Genetics in United States.

ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
EpiRapid.

By Ambry Genetics in United States.

SCN8A, PRRT2, PNPO, KCNQ3, KCNQ2, KCNT1, FOLR1, SCN1A, TSC1, TSC2, SLC2A1, PCDH19, ALDH7A1, STXBP1, MECP2, POLG
Specificity
7 %
Genes
100 %
EpiRapid reflex EpilepsyNext.

By Ambry Genetics in United States.

ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
POLG. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

POLG
Specificity
100 %
Genes
100 %
POLG. Detection of the mutations p.Thr251Ile, p.Ala467Thr, p. Pro587Leu, p.Trp748Ser and p.Gly848Ser by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

POLG
Specificity
100 %
Genes
100 %
MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SPTAN1, SRPX2, GABRG2, SCN1B, LGI1, SLC25A22, POLG2, MECP2, POLG
Specificity
12 %
Genes
100 %
Rapid Epilepsy Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SCN8A, KCNB1, GRIN2A, EPM2A, PNPO, KCNQ2, GRIN2B, SCN2A, NHLRC1, SCN1A, CSTB, SLC2A1, SLC6A8, ALDH7A1, GATM, GAMT, POLG
Specificity
6 %
Genes
100 %
Rapid Epilepsy Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SCN8A, KCNB1, GRIN2A, EPM2A, PNPO, KCNQ2, GRIN2B, SCN2A, NHLRC1, SCN1A, CSTB, SLC2A1, SLC6A8, ALDH7A1, GATM, GAMT, POLG
Specificity
6 %
Genes
100 %
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Rapid Epilepsy Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SCN8A, KCNB1, GRIN2A, EPM2A, PNPO, KCNQ2, GRIN2B, SCN2A, NHLRC1, SCN1A, CSTB, SLC2A1, SLC6A8, ALDH7A1, GATM, GAMT, POLG
Specificity
6 %
Genes
100 %
Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (sequence analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Autosomal Recessive Progressive External Ophthalmoplegia (sequence analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Progressive external ophthalmoplegia (sequence analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Childhood Myocerebrohepatopathy Spectrum Disorders (sequence analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial DNA depletion syndrome 4A/4B (mutations A467T, W748S and G848S on POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Myoclonic Epilepsy Myopathy Sensory Ataxia (sequence analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
POLG-Related Ataxia Neuropathy Spectrum Disorders (sequence analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia with epilepsy (sequence analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics in Portugal.

PLEKHG4, TMEM240, ZNF592, ELOVL5, PIK3R5, CCDC88C, VLDLR, DNMT1, PNKP, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SIL1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Parkinson disease (NGS panel for 33 genes).

By CGC Genetics in Portugal.

SNCAIP, PDXK, GIGYF2, ADH1C, EIF4G1, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, CSF1R, FTL, UCHL1, TAF1, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, SNCA , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO, sequence analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes).

By CGC Genetics in Portugal.

RNASEH1, DNA2, MGME1, TYMP, TK2, POLG2, DGUOK, RRM2B, SLC25A4, POLG, OPA1, TWNK
Specificity
9 %
Genes
100 %
Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene).

By CGC Genetics in Portugal.

POLG
Specificity
100 %
Genes
100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes).

By CGC Genetics in Portugal.

RNASEH1, DNA2, MGME1, TYMP, TK2, POLG2, DGUOK, RRM2B, SLC25A4, POLG, OPA1, TWNK
Specificity
9 %
Genes
100 %
POLG Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

POLG
Specificity
100 %
Genes
100 %
POLG-Related Disorders.

By Laboratory of Genetics HUSLAB in Finland.

POLG
Specificity
100 %
Genes
100 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
POLG-Related Mitochondrial Disorders via the POLG Gene.

By PreventionGenetics PreventionGenetics in United States.

POLG
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1 , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRDM12, CLTCL1, ATL3, SCN11A, NGF, RETREG1, DST, CCT5, DNMT1, SCN9A, KIF1A, ATL1, SPTLC1, WNK1, NTRK1, RAB7A, ELP1, FLVCR1, SPTLC2, POLG
Specificity
5 %
Genes
100 %
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DNA2, FBXL4, SUCLG2, MGME1, APTX, SUCLG1, MPV17, TYMP, SPG7, TK2, POLG2, SLC25A3, SUCLA2, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4, POLG , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Optic Atrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NR2F1, NDUFS1, TIMM8A, CISD2, SPG7, TMEM126A, MTPAP, SLC24A1, ACO2, OPA3, MFN2, POLG, WFS1, OPA1, C12orf65, AUH
Specificity
7 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes).

By PreventionGenetics PreventionGenetics in United States.

NDUFB9, MTFMT, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, NDUFA2, NDUFA13, NUBPL, NDUFA10 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

FLAD1, GYG1, RBCK1, HADH, PGK1, FDX2, AMPD1, LAMP2, SIL1, RYR1, ANO5, DYSF, FKRP, FKTN, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IARS2, GFM2, GTPBP3, COX8A, NDUFA4, PET100, ECHS1, LIPT1, SERAC1, EARS2, TPK1, COX10, FBXL4, NARS2, PNPT1, SLC19A3, PDHX, MTFMT, FARS2, TACO1 , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COA7, TRIT1, SFXN4, NSUN3, COQ5, TMEM126B, TRMT10C, RMND1, VARS2, TARS2, LYRM4, MRPL12, TRMT5, PARS2, MRPS7, MRPS23, MRPL44, COX7B, NDUFB11, COQ7 , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
POLG-Related Disorders.

By MGZ Medical Genetics Center in Germany.

POLG
Specificity
100 %
Genes
100 %
Kearns Sayre syndrome.

By MGZ Medical Genetics Center in Germany.

MGME1, TK2, POLG2, RRM2B, SLC25A4, POLG, C12orf65
Specificity
15 %
Genes
100 %
Mitochondrial Depletion.

By MGZ Medical Genetics Center in Germany.

MGME1, SUCLG1, MPV17, AIFM1, TYMP, TK2, SUCLA2, GFER, DGUOK, RRM2B, POLG, TWNK
Specificity
9 %
Genes
100 %
Mitochondrial Ataxia.

By MGZ Medical Genetics Center in Germany.

MARS2, TACO1, APTX, ABCB7, SPG7, COQ8A, MTPAP, AFG3L2, POLG, C12orf65
Specificity
10 %
Genes
100 %
Combined Respiratory Chain Defects.

By MGZ Medical Genetics Center in Germany.

RMND1, EARS2, MARS2, MTFMT, HARS2, FARS2, TACO1, LRPPRC, SUCLG1, MPV17, PUS1, TYMP, GFM1, TK2, MRPS16, TSFM, TUFM, DARS2, RARS2, MRPS22 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

UTP4, SLC27A5, ALAD, MYO5B, NR1H4, HMBS, UROD, PEX11B, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, UROS , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Epileptic Encephalopathy – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

GABRA1, PNPO, KCNC1, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1A, PHGDH, PPT1, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Progressive Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

NOL3, MYBPC1, NEU1, ASAH1, SCARB2, GABRA1, EPM2A, KCNC1, GABRD, FOLR1, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, CACNB4, CASR, SGCE, CSTB , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Ataxia.

By MGZ Medical Genetics Center in Germany.

KCNA4, SLC52A3, SLC6A19, SLC52A2, SLC2A10, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, SETX, CACNA1A, SACS, ATM, SLC2A1, TACO1, ASL, APTX, ASS1, SLC25A15 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic.

By MGZ Medical Genetics Center in Germany.

TRIT1, RMND1, EARS2, SCO1, COX10, FBXL4, SLC19A3, MTFMT, SUCLG1, NDUFS2, SURF1, MPV17, PDHA1, ETHE1, SCO2, COQ2, TK2, COQ8A, SUCLA2, TMEM70 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, ACTG2 , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Myopathy.

By MGZ Medical Genetics Center in Germany.

FDX2, LAMP2, CHKB, SLC22A5, ETFDH, ETFA, ETFB, ISCU, PUS1, TK2, RRM2B, POLG, CPT2, TWNK, ACADVL
Specificity
7 %
Genes
100 %
Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO).

By MGZ Medical Genetics Center in Germany.

MGME1, TYMP, SPG7, TK2, POLG2, RRM2B, SLC25A4, POLG, TWNK
Specificity
12 %
Genes
100 %
Muscle Disease with Ptosis / External Ophthalmoplegia.

By MGZ Medical Genetics Center in Germany.

ALG14, LRP4, PREPL, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, MTM1, RYR1, DNM2, RAPSN, DOK7, CHRNE, DPAGT1, KIF21A, CHAT, ALG2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Mitochondrial Hepato(encephalo)pathy and Phenocopies.

By MGZ Medical Genetics Center in Germany.

SCO1, GBE1, SUCLG1, CPT1A, MPV17, ABHD5, GFM1, TSFM, PNPLA2, DGUOK, POLG, TRMU, TWNK, BCS1L, AGL
Specificity
7 %
Genes
100 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

PTCD1, TRIT1, RMND1, VARS2, TARS2, FLAD1, LYRM7, NDUFB9, ATP5F1A, UQCRC2, SERAC1, IBA57, MICU1, EIF2AK3, EARS2, TPK1, SCO1, COX10, MARS2, FBXL4 , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Mitochondrial DNA depletion syndrome 4A (Alpers type).

By Centogene AG - the Rare Disease Company in Germany.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy.

By Centogene AG - the Rare Disease Company in Germany.

POLG
Specificity
100 %
Genes
100 %
Progressive external ophthalmoplegia with mitochondrial deletions autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

POLG
Specificity
100 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

HSPA9, TIMM44, NDUFB9, MIP, BCL2, CRBN, GSR, HADH, SCO1, COX10, LARS2, PDX1, BRIP1, SDHD, SDHA, PDHX, TMLHE, CPOX, OGG1, PPOX , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
100 %
Mitochondrial dysfunctions panel.

By Centogene AG - the Rare Disease Company in Germany.

MT-TF, MT-TQ, MT-TH, MT-TP, MT-ND5, MT-TS2, MT-TS1, MT-ND6, MT-ND1, MT-TK, MT-TL1, SUCLG1, MPV17, PUS1, TYMP, TK2, SUCLA2, DGUOK, RRM2B, POLG , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Progressive external ophthalmoplegia with mitochondrial deletions, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy.

By Centogene AG - the Rare Disease Company in Germany.

POLG
Specificity
100 %
Genes
100 %
Progressive external ophthalmoplegia with mitochondrial deletions type 1.

By Centogene AG - the Rare Disease Company in Germany.

POLG
Specificity
100 %
Genes
100 %
Sensory ataxic neuropathy dysarthria, and ophthalmoparesis.

By Centogene AG - the Rare Disease Company in Germany.

POLG
Specificity
100 %
Genes
100 %
Comprehensive mtDNA Depletion Syndromes NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

CHCHD10, FBXL4, MGME1, SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, DGUOK, RRM2B, AFG3L2, SLC25A4, POLG, OPA1, TWNK
Specificity
7 %
Genes
100 %
Migraine Panel.

By CeGaT GmbH in Germany.

KCNK18, PRRT2, ATP1A3, ATP1A2, SLC1A3, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
10 %
Genes
100 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

TENM4, VPS13C, ASNA1, RAB29, PRKAR1B, CHCHD2, DNAJC13, PODXL, PDE8B, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, PDE10A, FTL, C19orf12, TAF1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

HNRNPA1, HNRNPA2B1, MSTN, VMA21, CHCHD10, HACD1, MICU1, ORAI1, STIM1, CASQ1, LMOD3, SPEG, STAC3, MTMR14, MYF6, KLHL41, COL12A1, DNA2, ACVR1, FKBP14 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

CYC1, NDUFB9, MPC1, ATP5F1A, YWHAE, UQCRC2, DECR1, CHCHD10, PET100, COA5, SERAC1, COX20, SLC25A1, IBA57, HOGA1, COQ8B, IDH1, HADH, EARS2, TPK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Atypical Parkinson syndrome Panel.

By CeGaT GmbH in Germany.

PDE8B, SLC30A10, DNAJC6, FBXO7, FTL, RAB39B, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, GCH1, ATXN3, ATXN2, C9orf72, MAPT, SPG11, ZFYVE26, PLA2G6, TH , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Basal ganglia calcification Panel.

By CeGaT GmbH in Germany.

XPR1, PDGFB, PDGFRB, TBCE, ERCC8, SLC20A2, TREM2, CTC1, ADAR, IFIH1, ERCC6, GATA3, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, COL4A1, FOLR1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Single gene testing POLG.

By CeGaT GmbH in Germany.

POLG
Specificity
100 %
Genes
100 %
POLG-Related Disorders.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

NDUFB9, COA5, HADH, SCO1, COX10, SLC19A3, SETX, PDX1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, TACO1, SOD1, APTX, SLC25A20, COX6B1, FASTKD2, LRPPRC , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

ARHGEF10, NGF, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, PRPS1, SCN9A , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis.

By Asper Biogene Asper Biogene LLC in Estonia.

GYG1, PGK1, AMPD1, PRKAG2, RYR1, CAV3, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, ISCU, PGAM2, LPIN1, ABHD5, PHKA1, TAZ , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
POLG-Related Disorders.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

POLG
Specificity
100 %
Genes
100 %
Alpers-Huttenlocher syndrome.

By Praxis fuer Humangenetik Wien in Austria.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial DNA depletion syndrome 4A (Alpers type).

By Praxis fuer Humangenetik Wien in Austria.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE).

By Praxis fuer Humangenetik Wien in Austria.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial DNA depletion syndrome 4B (MNGIE type).

By Praxis fuer Humangenetik Wien in Austria.

POLG
Specificity
100 %
Genes
100 %
Ophthalmoplegia, progressive external 1.

By Praxis fuer Humangenetik Wien in Austria.

POLG
Specificity
100 %
Genes
100 %
Ophthalmoplegia, progressive external 1.

By Praxis fuer Humangenetik Wien in Austria.

POLG
Specificity
100 %
Genes
100 %
Alpers-Huttenlocher syndrome.

By MedGene in Slovakia.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial DNA depletion syndrome 4A (Alpers type).

By MedGene in Slovakia.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial DNA depletion syndrome 4B (MNGIE type).

By MedGene in Slovakia.

POLG
Specificity
100 %
Genes
100 %
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE).

By MedGene in Slovakia.

POLG
Specificity
100 %
Genes
100 %
Ophthalmoplegia, progressive external 1.

By MedGene in Slovakia.

POLG
Specificity
100 %
Genes
100 %
Ophthalmoplegia, progressive external 1.

By MedGene in Slovakia.

POLG
Specificity
100 %
Genes
100 %
Invitae Organic Acidemias Panel.

By Invitae in United States.

OPLAH, PPM1K, FTCD, SERAC1, SLC25A1, GSS, ASPA, GCDH, ETFDH, ETFA, ETFB, L2HGDH, IVD, OXCT1, SUCLG1, MLYCD, DBT, HIBCH, MUT, MMAA , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Invitae Epilepsy Panel.

By Invitae in United States.

ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
100 %
Alpers-Huttenlocher syndrome: POLG gene screening.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

POLG
Specificity
100 %
Genes
100 %
Alpers-Huttenlocher syndrome: POLG gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

POLG
Specificity
100 %
Genes
100 %
MIGRAINE.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
17 %
Genes
100 %
Spinocerebellar ataxia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ATXN8, NOP56, IFRD1, VLDLR, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, SLC1A3, SYNE1, SETX, ATN1, TBP, CACNA1A, ATXN7 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Ataxia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

IFRD1, ZNF592, PIK3R5, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, CACNA1A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Optic atrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NDUFS1, TIMM8A, CISD2, SPG7, TMEM126A, OPA3, MFN2, POLG, WFS1, OPA1, C12orf65, AUH
Specificity
9 %
Genes
100 %
NGS panel - Parkinson.

By Genome Diagnostics VU University Medical Center in Netherlands.

SLC18A2, RAB29, PRKAR1B, DNAJC13, GIGYF2, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, FTL, UCHL1, TAF1, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SERAC1, CD320, HYAL1, NAGA, NEU1, MFSD8, CLN5, SUMF1, SLC17A5, MCOLN1, SLC7A7, PPT1, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SLC27A5, NR1H4, CYP7A1, PEX11B, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, ABCG8, ABCG5, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Lactic Acidosis-Pyruvate NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COX10, PDHX, APTX, COX6B1, LRPPRC, ETFDH, ETFA, ETFB, DLAT, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFAF3, ISCU, NDUFAF6 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Migraine NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PNPO, KCNQ2, FOLR1, ATP1A2, CACNA1A, SCN1A, PHGDH, PPT1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT, MECP2, POLG
Specificity
6 %
Genes
100 %
Myopathy-Rhabdomyolysis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CPT1B, PFKM, PGAM2, PHKA1, TYMP, HADHB, TK2, POLG2, GYS1, SUCLA2, PGM1, OPA3, HADHA, RRM2B, POLG, OPA1, CPT2, GAA, TWNK, ACADVL , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Mitochondrial DNA Depletion Syndromes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, DGUOK, RRM2B, SLC25A4, POLG, TWNK
Specificity
10 %
Genes
100 %
Parkinson-Alzheimer-Dementia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MPO, EIF4G1, AAAS, PRKRA, A2M, VPS35, SLC6A3, FBXO7, PRNP, TREM2, CSF1R, ACE, UCHL1, TAF1, DNMT1, ATP13A2, ATP1A3, DCTN1, SNCA, LRRK2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
mtDNA Depletion Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, DGUOK, RRM2B, SLC25A4, POLG, TWNK
Specificity
10 %
Genes
100 %
Hemiplegia/Stroke NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL4A2, COL4A1, ATP1A3, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, OTC, POLG
Specificity
10 %
Genes
100 %
POLG.

By Fulgent Genetics Fulgent Genetics in United States.

POLG
Specificity
100 %
Genes
100 %
Essential Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP , (...)

View the complete list with 113 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
NCL and Progressive Myoclonic Epilepsy Panel.

By Blueprint Genetics in Finland.

CERS1, NEU1, SERPINI1, ATP13A2, MFSD8, DNAJC5, CTSF, BRAT1, TBC1D24, ASAH1, SCARB2, EPM2A, KCNC1, GABRB2, FOLR1, PRICKLE1, KCTD7, NHLRC1, GOSR2, CSTB , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

TMEM126B, VMA21, COL4A2, RBCK1, POGLUT1, MICU1, GMPPB, LMOD3, SPEG, TOR1AIP1, TNPO3, LIMS2, KLHL41, COL12A1, MME, VPS13A, COL4A1, ITGA7, B3GALNT2, COL6A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

FDXR, SLC38A8, CHN1, ROBO3, ANTXR1, RTN4IP1, SLC25A46, SALL4, PRPS1, NR2F1, SETX, KIF21A, HESX1, SOX2, APTX, NDUFS1, TIMM8A, FRMD7, PHOX2A, TYMP , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Premature Ovarian Failure Panel.

By Blueprint Genetics in Finland.

FSHR, BMP15, NOBOX, CYP19A1, GNAS, NR5A1, POR, LHCGR, LMNA, CYP17A1, GALT, POLG, WT1, STAR, FOXL2
Specificity
7 %
Genes
100 %
Optic Atrophy Panel.

By Blueprint Genetics in Finland.

FDXR, SNX10, RTN4IP1, SLC52A2, SLC25A46, PRPS1, NR2F1, NDUFS1, TIMM8A, CISD2, SPG7, TMEM126A, ACO2, OPA3, MFN2, POLG, WFS1, OPA1, C12orf65
Specificity
6 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Metabolic Epilepsy Panel.

By Blueprint Genetics in Finland.

SLC39A8, DPYS, GPHN, DHFR, SERAC1, SLC25A1, SLC46A1, PGK1, PNPO, GCH1, DPYD, SLC2A1, AGA, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, HIBCH , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis Panel.

By Blueprint Genetics in Finland.

TANGO2, FLAD1, GYG1, RBCK1, PGK1, MYH3, AMPD1, RYR1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, AHCY, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Mitochondrial DNA Depletion Syndrome Panel.

By Blueprint Genetics in Finland.

FBXL4, APTX, SUCLG1, NDUFS1, MPV17, TIMM8A, TYMP, SPG7, TK2, POLG2, SLC25A3, SUCLA2, TMEM126A, DGUOK, AGK, OPA3, MFN2, RRM2B, SLC25A4, POLG , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Migraine Panel.

By Blueprint Genetics in Finland.

KCNK18, PRRT2, ATP1A3, ATP1A2, SLC1A3, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
10 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Idiopathic Generalized and Focal Epilepsy Panel.

By Blueprint Genetics in Finland.

MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Progressive external ophthalmoplegia, autosomal dominant.

By Bioarray in Spain.

POLG
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
POLG Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

POLG
Specificity
100 %
Genes
100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

FGF19, ONECUT1, HES1, ABCC4, ABCC3, SLCO2B1, SLCO1A2, SLC51B, SLC51A, CHMP5, FOXM1, CD14, MYO5B, NR1H4, COPA, CYP7A1, SEC63, SLCO1B3, SLCO1B1, HSD3B7 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM.

By Laboratorio de Genetica Clinica SL in Spain.

MPV17, DGUOK, POLG, TWNK
Specificity
25 %
Genes
100 %
ALPERS-HUTTENLOCHER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

POLG
Specificity
100 %
Genes
100 %
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE).

By Laboratorio de Genetica Clinica SL in Spain.

TYMP, RRM2B, POLG
Specificity
34 %
Genes
100 %
SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - OPHTHALMOPARESIS (SANDO).

By Laboratorio de Genetica Clinica SL in Spain.

POLG
Specificity
100 %
Genes
100 %
OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL (PEO).

By Laboratorio de Genetica Clinica SL in Spain.

POLG2, SLC25A4, POLG, TWNK
Specificity
25 %
Genes
100 %
Spastic paraplegia panel, autosomal dominant.

By LifeLabs Genetics in Canada.

ZFYVE27, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, KIF5A, SPAST, ATL1, POLG2, REEP1, HSPD1, POLG
Specificity
8 %
Genes
100 %
Alpers-Huttenlocher Syndrome, Sequencing POLG Gene.

By Reference Laboratory Genetics in Spain.

POLG
Specificity
100 %
Genes
100 %
Alpers-Huttenlocher Syndrome, Deletions-Duplications (MLPA) POLG Gene.

By Reference Laboratory Genetics in Spain.

POLG
Specificity
100 %
Genes
100 %
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes.

By Reference Laboratory Genetics in Spain.

ATXN8, NOP56, VLDLR, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, SYNE1, SETX, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
17 %
Genes
100 %
Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

ROBO3, POLG2, RRM2B, SLC25A4, POLG, OPA1, TWNK
Specificity
15 %
Genes
100 %
Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

SUCLG1, MPV17, TYMP, TK2, POLG2, SUCLA2, GFER, DGUOK, MFN2, RRM2B, SLC25A4, POLG, OPA1, TWNK
Specificity
8 %
Genes
100 %
POLG-Related Disorders: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

POLG
Specificity
100 %
Genes
100 %

Alternate names

Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mtdps4a Is also known as alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis, alpers progressive infantile poliodystrophy, alpers syndrome, alpers-huttenlocher syndrome, neuronal degeneration of childhood with liver disease, progressive;pndc;alpers progressive sclerosing poliodystrophy; alpers syndrome; progressive neuronal degeneration of childhood with liver disease.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XANTHINURIA, TYPE II; XAN2 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD MENTAL RETARDATION, X-LINKED 12; MRX12 PIERSON SYNDROME EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY

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