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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessAchondrogenesis type IB

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Achondrogenesis type IB

ID
AS0010
Number of genes
1 Accredited laboratory test
Examined sequence length
2,3 kb (Core-/Core-canditate-Genes)
- (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
SLC26A22220NM_000112.4AR

Informations about the disease

Clinical Comment

Lethal achondrogenesis with severe micromelia with very short fingers, toes, flat face, short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage

 

Synonyms
  • Achondrogenesis, Houston-Harris type (SLC26A2)
  • Achondrogenesis, Parenti-Fraccaro type (SLC26A2)
  • Allelic: Atelosteogenesis, type II (SLC26A2)
  • Allelic: De la Chapelle dysplasia (SLC26A2)
  • Allelic: Diastrophic dysplasia (SLC26A2)
  • Allelic: Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
  • Allelic: Epiphyseal dysplasia, multiple, 4 (SLC26A2)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined