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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessMDS - mtDNA depletion syndromes, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for MDS - Mitochondrial DNA depletion syndromes comprising 23 guideline-curated and altogether 25 curated genes according to the clinical signs

ID
MP9873
Number of genes
23 Accredited laboratory test
Examined sequence length
35,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
  • Gewebeprobe
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABAT1503NM_000663.5AR
AFG3L22394NM_006796.3AD, AR
AGK1269NM_018238.4AR
DGUOK834NM_080916.3AR
DNA23183NM_001080449.3AD
DNM1L2211NM_012062.5AD, AR
FBXL41866NM_012160.5AR
GFER618NM_005262.3AR
MFN22274NM_014874.4AD, AR
MGME11035NM_052865.4AR
MPV17531NM_002437.5AR
OPA12883NM_015560.3AD, AR
POLG3720NM_002693.3AD, AR
RNASEH1869NM_002936.6AR
RRM2B1272NM_015713.5AD, AR
SLC25A21897NM_001171170.2AR
SLC25A4897NM_001151.4AD, AR
SUCLA21392NM_003850.3AR
SUCLG11041NM_003849.4AR
TFAM645NM_001270782.2AR
TK2705NM_001172643.1AR
TWNK2055NM_021830.5AD, AR
TYMP1449NM_001953.5AR

Informations about the disease

Synonyms
  • Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
  • Allelic: Optic atrophy 5 (DNM1L)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Seckel syndrome 8 (DNA2)
  • Behr syndrome (OPA1)
  • Charcot-Marie-Tooth disease, axonal, type 2A2B + 2A2A (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
  • GABA-transaminase deficiency (ABAT)
  • Hereditary motor + sensory neuropathy VIA (MFN2)
  • Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
  • Mitochondrial DNA depletion syndrome 11 (MGME1)
  • Mitochondrial DNA depletion syndrome 12A [cardiomyopathic type] (SLC25A4)
  • Mitochondrial DNA depletion syndrome 12B [cardiomyopathic type] (SLC25A4)
  • Mitochondrial DNA depletion syndrome 13 [encephalomyopathic type] (FBXL4)
  • Mitochondrial DNA depletion syndrome 14 [encephalocardiomyopathic type] (OPA1)
  • Mitochondrial DNA depletion syndrome 15 [hepatocerebral type] (TFAM)
  • Mitochondrial DNA depletion syndrome 16, hepatic type (POLG2)
  • Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (POLG2)
  • Mitochondrial DNA depletion syndrome 18 (SLC25A21)
  • Mitochondrial DNA depletion syndrome 2 [myopathic type] (TK2)
  • Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
  • Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
  • Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
  • Mitochondrial DNA depletion syndrome 5 [encephalomyopathy +/- methylmalonic aciduria] (SUCLA2)
  • Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
  • Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
  • Mitochondrial DNA depletion syndrome 8A [encephalomyopathic type with renal tubulopathy] (RRM2B)
  • Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
  • Mitochondrial DNA depletion syndrome 9 [encephalomyopathic type + methylmalonic aciduria] (SUCLG1)
  • Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Myopathy, mitochondrial progressive, with congenital cataract + developmental delay (GFER)
  • Optic atrophy 1 (OPA1)
  • Optic atrophy plus syndrome (OPA1)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 4 (POLG2)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 2 (RNASEH1)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 3 (TK2)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Sengers syndrome (AGK)
  • Spastic ataxia 5, AR (AFG3L2)
  • mtDNA depletion [panelapp amber] (LIG3)
  • mtDNA depletion syndrome 10 [panelapp red] (AGK)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined