Mitochondrial Dna Depletion Syndrome 8a (encephalomyopathic Type With Renal Tubulopathy); Mtdps8a

Description

Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Dna Depletion Syndrome 8a (encephalomyopathic Type With Renal Tubulopathy); Mtdps8a

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Sensorineural hearing impairment
  • Ptosis
  • Muscle weakness
  • Peripheral neuropathy
And another 25 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Mitochondrial Dna Depletion Syndrome 8a (encephalomyopathic Type With Renal Tubulopathy); Mtdps8a Recommended genes panels

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

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
RRM2B Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RRM2B
Specificity
100 %
Genes
100 %
RRM2B Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RRM2B
Specificity
100 %
Genes
100 %
RRM2B Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

RRM2B
Specificity
100 %
Genes
100 %
RRM2B Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

RRM2B
Specificity
100 %
Genes
100 %
mtDNA Depletion/Integrity Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

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

By Baylor Miraca Genetics Laboratories in United States.

TWNK, OPA1, POLG, SLC25A4, RRM2B, OPA3, POLG2, MGME1
Specificity
13 %
Genes
100 %
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS).

By Athena Diagnostics Inc in United States.

RRM2B, TYMP, MT-TL1
Specificity
34 %
Genes
100 %
RRM2B DNA Sequencing Test (Related to mtDNA depletion).

By Athena Diagnostics Inc in United States.

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

By Athena Diagnostics Inc in United States.

POLG, RRM2B, TK2
Specificity
34 %
Genes
100 %
Mitochondrial Depletion Panel.

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

TWNK, OPA1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, ABAT, GFER, SUCLA2, POLG2, TK2, SPG7, TYMP, MPV17, SUCLG1, APTX, MGME1 , (...)

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.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

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.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

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.

ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, SLC16A1, CPT2, POLG, RRM2B, HADHA, DGUOK, PGM1, LDHA, ENO3, SUCLA2, TSFM, TK2, HADHB, PHKA1 , (...)

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.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Progressive External Opthalmoplegia.

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

TWNK, OPA1, POLG, SLC25A4, RRM2B, POLG2
Specificity
17 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

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

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Progressive external ophthalmoplegia with mitochondrial deletions type 5 (sequence analysis of RRM2B gene).

By CGC Genetics in Portugal.

RRM2B
Specificity
100 %
Genes
100 %
Mitochondrial DNA depletion syndrome 8 (sequence analysis of RRM2B gene).

By CGC Genetics in Portugal.

RRM2B
Specificity
100 %
Genes
100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes).

By CGC Genetics in Portugal.

TWNK, OPA1, POLG, SLC25A4, RRM2B, DGUOK, POLG2, TK2, TYMP, MGME1, DNA2, RNASEH1
Specificity
9 %
Genes
100 %
Progressive external ophthalmoplegia (NGS panel of 12 genes).

By CGC Genetics in Portugal.

TWNK, OPA1, POLG, SLC25A4, RRM2B, DGUOK, POLG2, TK2, TYMP, MGME1, DNA2, RNASEH1
Specificity
9 %
Genes
100 %
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene.

By PreventionGenetics PreventionGenetics in United States.

RRM2B
Specificity
100 %
Genes
100 %
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TWNK, OPA1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, SUCLA2, SLC25A3, POLG2, TK2, SPG7, TYMP, MPV17, SUCLG1, APTX, MGME1, SUCLG2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADM, ACADS, AGL, ACADVL, ALDOA, TWNK, GAA, AMACR, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, COQ9, PDSS2, PDSS1, PGM1, LDHA , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Kearns Sayre syndrome.

By MGZ Medical Genetics Center in Germany.

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

By MGZ Medical Genetics Center in Germany.

TWNK, POLG, RRM2B, DGUOK, GFER, SUCLA2, TK2, TYMP, AIFM1, MPV17, SUCLG1, MGME1
Specificity
9 %
Genes
100 %
Combined Respiratory Chain Defects.

By MGZ Medical Genetics Center in Germany.

AARS2, YARS2, C12orf65, TRMU, POLG, RRM2B, MTO1, DGUOK, SARS2, MTPAP, GFER, SUCLA2, MRPS22, RARS2, DARS2, TUFM, TSFM, MRPS16, TK2, GFM1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy.

By MGZ Medical Genetics Center in Germany.

RRM2B
Specificity
100 %
Genes
100 %
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5.

By MGZ Medical Genetics Center in Germany.

RRM2B
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, TWNK, TRMU, POLG, NDUFS4, RRM2B, MTO1, COQ9, PDSS2, PDSS1, COQ6, DGUOK, TMEM70, SUCLA2, COQ8A, TK2, COQ2, SCO2, ETHE1 , (...)

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

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

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

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

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

By MGZ Medical Genetics Center in Germany.

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

By MGZ Medical Genetics Center in Germany.

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

By MGZ Medical Genetics Center in Germany.

TWNK, TUBB3, POLG, SLC25A4, RRM2B, POLG2, ALG2, CHAT, KIF21A, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, RYR1, MTM1, COLQ, MUSK, GFPT1, AGRN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4 , (...)

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

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

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

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Mitochondrial DNA depletion syndrome.

By Centogene AG - the Rare Disease Company in Germany.

RRM2B
Specificity
100 %
Genes
100 %
Progressive external ophthalmoplegia with mitochondrial deletions type 5.

By Centogene AG - the Rare Disease Company in Germany.

RRM2B
Specificity
100 %
Genes
100 %
Mitochondrial dysfunctions panel.

By Centogene AG - the Rare Disease Company in Germany.

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

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

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Mitochondrial DNA depletion syndrome.

By Centogene AG - the Rare Disease Company in Germany.

RRM2B
Specificity
100 %
Genes
100 %
Comprehensive mtDNA Depletion Syndromes NGS Panel.

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

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

By CeGaT GmbH in Germany.

YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Metabolic Myopathies Panel.

By CeGaT GmbH in Germany.

ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, YARS2, GAA, SLC16A1, CPT2, RRM2B, HADHA, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Single gene testing RRM2B.

By CeGaT GmbH in Germany.

RRM2B
Specificity
100 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis.

By Asper Biogene Asper Biogene LLC in Estonia.

ACAD9, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Glaucoma (Advance).

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

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, CYP1B1, RRM2B, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, LTBP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Lactic Acidosis-Pyruvate NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, YARS2, FBP1, PC, GYS2, UQCRB, ATP5F1E, ATPAF2, BCS1L, TRMU, DLD, POLG, NDUFS4, SLC25A4, FOXRED1, RRM2B, FH, COQ9, PDSS2, PDSS1 , (...)

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

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, ACADL, ACADM, AGL, ACADVL, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, SUCLA2, GYS1, POLG2, TK2, HADHB, TYMP , (...)

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.

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

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

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.

TWNK, POLG, SLC25A4, RRM2B, DGUOK, SUCLA2, POLG2, TK2, TYMP, MPV17, SUCLG1
Specificity
10 %
Genes
100 %
RRM2B.

By Fulgent Genetics Fulgent Genetics in United States.

RRM2B
Specificity
100 %
Genes
100 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

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

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, COQ8A, GYS1 , (...)

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

By Blueprint Genetics in Finland.

AUH, TWNK, C12orf65, OPA1, WFS1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, TMEM126A, SUCLA2, SLC25A3, POLG2, TK2, SPG7, TYMP, TIMM8A , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

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

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

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

By Laboratorio de Genetica Clinica SL in Spain.

RRM2B, SUCLA2, FBXL4
Specificity
34 %
Genes
100 %
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE).

By Laboratorio de Genetica Clinica SL in Spain.

POLG, RRM2B, TYMP
Specificity
34 %
Genes
100 %
Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

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

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RRM2B
Specificity
100 %
Genes
100 %

Alternate names

Mitochondrial Dna Depletion Syndrome 8a (encephalomyopathic Type With Renal Tubulopathy); Mtdps8a Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive;mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy.



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