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)
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
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