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

IllnessMitochondrial diseases, complex III deficiency; differential diagnosis

Summary

Short information

A curated panel containing 1 guideline-curated gene as well as 12 genes for the comprehensive analysis of the suspected diagnosis Mitochondrial diseases; complex III deficiency

ID
MP3357
Number of genes
12 Accredited laboratory test
Examined sequence length
4,0 kb (Core-/Core-canditate-Genes)
8,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
  • Gewebeprobe
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BCS1L1260NM_004328.5AR
CYC1978NM_001916.5AR
LYRM7315NM_181705.4AR
TTC19822NM_001271420.2AR
UQCC2385NM_032340.4AR
UQCRB240NM_001199975.3AR
UQCC3284NM_001085372.3AR
UQCRC11443NM_003365.3n.k.
UQCRC21362NM_003366.4AR
UQCRFS1825NM_006003.3AR
UQCRH276NM_006004.4AR
UQCRQ249NM_014402.5AR

Informations about the disease

Synonyms
  • Alias: Isolated CoQ-cytochrome c reductase deficiency
  • Alias: Ubiquinone-cytochrome c oxidoreductase deficiency
  • Bjornstad syndrome (BCS1L)
  • GRACILE syndrome (BCS1L)
  • Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
  • Mitochondrial complex III deficiency, nuclear type 10 (UQRFS1)
  • Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
  • Mitochondrial complex III deficiency, nuclear type 3 (UQCRB)
  • Mitochondrial complex III deficiency, nuclear type 4 (UQCRQ)
  • Mitochondrial complex III deficiency, nuclear type 5 (UQCRC2)
  • Mitochondrial complex III deficiency, nuclear type 6 (CYC1)
  • Mitochondrial complex III deficiency, nuclear type 7 (UQCC2)
  • Mitochondrial complex III deficiency, nuclear type 8 (LYRM7)
  • Mitochondrial complex III deficiency, nuclear type 9 (UQCC3)
  • [No phenotypes: UQCC1, UQCC3, UQCR10, UQCR11]
Heredity, heredity patterns etc.
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined