IllnessCoenzyme Q10 deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Coenzyme-Q10 deficiency comprising 11 guideline-curated and altogether 12 curated genes according to the clinical signs

CP9877

Number of genes

12 Accredited laboratory test

Examined sequence length

15,2 kb (Core-/Core-canditate-Genes)
15,9 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ANO10	1983	613726	NM_018075.5	AR
APTX	1029	606350	NM_175073.3	AR
COQ2	1266	609825	NM_015697.9	AR
COQ4	798	612898	NM_016035.5	AR
COQ6	1407	614647	NM_182476.3	AR
COQ8A	1944	606980	NM_020247.5	AR
COQ8B	1512	615567	NM_001142555.3	AR
COQ9	957	612837	NM_020312.4	AR
ETFDH	1854	231675	NM_004453.4	AR
PDSS1	1248	607429	NM_014317.5	AR
PDSS2	1200	610564	NM_020381.4	AR
COQ7	665	601683	NM_001190983.2	AR

Informations about the disease

Synonyms

Alias: CoQ deficiency 1
Alias: CoQ10 deficiency, primary, 1
Alias: Coenzyme Q deficiency 1
Alias: Primary coenzyme Q10 deficiency
Alias: Ubiquinone deficiency 1
Allelic: Multiple system atrophy, susceptibility to (COQ2)
Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
Coenzyme Q10 deficiency, primary, 1 (COQ2)
Coenzyme Q10 deficiency, primary, 2 (PDSS1)
Coenzyme Q10 deficiency, primary, 3 (PDSS2)
Coenzyme Q10 deficiency, primary, 4 (COQ8A)
Coenzyme Q10 deficiency, primary, 5 (COQ9)
Coenzyme Q10 deficiency, primary, 6 (COQ6)
Coenzyme Q10 deficiency, primary, 7 (COQ4)
Coenzyme Q10 deficiency, primary, 8 (COQ7)
Glutaric acidemia IIC (ETFDH)
Nephrotic syndrome, type 9 (COQ8B)
Spinocerebellar ataxia, AR 10 (ANO10)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined