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

IllnessCosteff syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Costeff syndrome comprising 13 curated genes according to the clinical signs

ID
CP1991
Number of genes
13 Accredited laboratory test
Examined sequence length
0,6 kb (Core-/Core-canditate-Genes)
16,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
OPA3540NM_025136.4AR
AGK1269NM_018238.4AR
AUH1020NM_001698.3AR
CLPB2034NM_001258392.3AR
DNAJC19351NM_145261.4AR
HTRA21377NM_013247.5AR
POLG3720NM_002693.3AR
SERAC11965NM_032861.4AR
SUCLA21392NM_003850.3AR
SUCLG11041NM_003849.4AR
TAFAZZIN879NM_000116.5XLR
TIMM50294NM_004085.4AR
TMEM70324NM_001040613.3AR

Informations about the disease

Clinical Comment

Optic atrophy and/or choreoathetoid movement disorder with onset before age of 10 years

 

Synonyms
  • Alias: 3-methylglutaconic aciduria, type III (OPA3)
  • Alias: Iraqi-Jewish 'Optic atrophy plus' (OPA3)
  • Alias: Optic atrophy 3 with cataract (OPA3)
  • Alias: Optic atrophy 3, AR (OPA3)
  • Alias: Optic atrophy plus syndrome (OPA3)
  • Alias: Optic atrophy, infantile, with chorea + spastic paraplegia (OPA3)
  • Allelic: Parkinson disease 13 (HTRA)
  • 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome SERAC1)
  • 3-methylglutaconic aciduria, type I (AUH)
  • 3-methylglutaconic aciduria, type IX (TIMM50)
  • 3-methylglutaconic aciduria, type V (DNAJC19)
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
  • 3-methylglutaconic aciduria, type VIII (HTRA2)
  • Barth syndrome (TAFAZZZIN, TAZ)
  • Cataract 38, AR (AGK)
  • Mito. DNA depletion syndrome 5 [encephalomyopathic with/-out methylmalonic aciduria] (SUCLA2)
  • Mito. DNA depletion syndrome 9 [encephalomyopathic type with methylmalonic aciduria] (SUCLG1)
  • Mitochondrial DNA depletion syndrome 4A [Alpers type] + 4B [MNGIE type] (POLG)
  • Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
  • Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Progressive external ophthalmoplegia, AR 1 (POLG)
  • Sengers syndrome (AGK)
Heredity, heredity patterns etc.
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined