Deutsch
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)
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
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
G31.81
Bioinformatics and clinical interpretation
No text defined