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

IllnessMitochondrial disorders, complex II deficiency; differential diagnosis

Summary

Short information

A curated panel containing 8 genes for the comprehensive analysis of the suspected diagnosis Mitochondrial diseases; complex II deficiency

ID
MP3358
Number of genes
8 Accredited laboratory test
Examined sequence length
5,1 kb (Core-/Core-canditate-Genes)
5,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
  • Gewebeprobe
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SDHA1995NM_004168.4AR
SDHAF1348NM_001042631.3AR
SDHAF2501NM_017841.4n.k.
SDHAF3378NM_020186.3n.k.
SDHB843NM_003000.3AR
SDHC510NM_003001.5n.k.
SDHD480NM_003002.4AR
SDHAF4330NM_145267.3n.k.

Informations about the disease

Synonyms
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA, SDHC)
  • Allelic: Gastrointestinal stromal tumor (SDHB)
  • Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
  • Mitochondrial complex II deficiency, nuclear type 2 (SDHAF1)
  • Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
  • Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
  • Paraganglioma + gastric stromal sarcoma (SDHB)
  • Paraganglioma and gastric stromal sarcoma (SDHC)
  • Paraganglioma and gastric stromal sarcoma (SDHD)
  • Paragangliomas 1, with/-out deafness (SDHD)
  • Paragangliomas 2 (SDHAF2)
  • Paragangliomas 3 (SDHC)
  • Paragangliomas 4 (SDHB)
  • Paragangliomas 5 (SDHA)
  • Pheochromocytoma (SDHB, SDHD)
  • [no OMIM phenotype] (SDHAF4)
Heredity, heredity patterns etc.
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined