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Interdisciplinary CompetenceMolecular Diagnostics

Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMitochondriale Erkrankungen; Komplex II-Defizienz; Differentialdiagnose

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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

Material

EDTA-anticoagulated blood (3-5 ml)
Gewebeprobe

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SDHA	1995	600857	NM_004168.4	AR
SDHAF1	348	612848	NM_001042631.3	AR
SDHAF2	501	613019	NM_017841.4	n.k.
SDHAF3	378	615773	NM_020186.3	n.k.
SDHB	843	185470	NM_003000.3	AR
SDHC	510	602413	NM_003001.5	n.k.
SDHD	480	602690	NM_003002.4	AR
SDHAF4	330	619198	NM_145267.3	n.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