©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessmtDNA maintenance disorders, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for mtDNA maintenance disorders comprising 25 guideline-curated and another 2 curated genes

ID
MP3354
Number of genes
26 Accredited laboratory test
Examined sequence length
37,2 kb (Core-/Core-canditate-Genes)
42,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

MP3354_DH

 

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
FBXL41866NM_012160.5AR
GFER618NM_005262.3AR
MFN22274NM_014874.4AD, AR
MGME11035NM_052865.4AR
MPV17531NM_002437.5AR
OPA12883NM_015560.3AD, AR
POLG3720NM_002693.3AR, AD
POLG21458NM_007215.4AD, AR
RNASEH1869NM_002936.6AR
RRM2B1272NM_015713.5AR
SLC25A21897NM_001171170.2AR
SLC25A4897NM_001151.4AD, AR
SPG72388NM_003119.4AR, AD
SUCLA21392NM_003850.3AR
SUCLG11041NM_003849.4AR
TFAM645NM_001270782.2AR
TK2705NM_001172643.1AR
TWNK2055NM_021830.5AD, AR
TYMP1449NM_001953.5AR
DNM22613NM_001005360.3AD
TOP3A3006NM_004618.5AR

Informations about the disease

Synonyms
  • Allelic: Optic atrophy 5 (DNM1L)
  • Behr syndrome (OPA1)
  • Cataract 38, AR (AGK)
  • Centronuclear myopathy 1 (DNM2)
  • Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
  • Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
  • GABA-transaminase deficiency (ABAT)
  • Glaucoma, normal tension, susceptibility to (OPA1)
  • Hereditary motor + sensory neuropathy VIA (MFN2)
  • Lethal congenital contracture syndrome 5 (DNM2)
  • Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
  • 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 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 [encephalomyopathic +/- methylmalonic aciduria] (SUCLA)
  • Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
  • Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
  • Mitochondrial DNA depletion syndrome 8A [encephalomyopathic 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, congenital cataract + developmental delay (GFER)
  • Optic atrophy 1 (OPA1)
  • Optic atrophy 12 (AFG3L2)
  • Optic atrophy plus syndrome (OPA1)
  • Perrault syndrome 5 (TWNK)
  • Portal hypertension, noncirrhotic (DGUOK)
  • 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 5 (RRM2B)
  • 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 with mitochondrial DNA deletions, AR 5 (TOP3A)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Progressive external ophthalmoplegia, AR 1 (POLG)
  • Seckel syndrome 8 (DNA2)
  • Sengers syndrome (AGK)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paraplegia 7, AR (SPG7)
  • Spinocerebellar ataxia 28 (AFG3L2)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined