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

IllnessAchondroplasia

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Achondroplasia

ID
AS0030
Number of genes
1 Accredited laboratory test
Examined sequence length
2,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FGFR32421NM_000142.5AD

Informations about the disease

Clinical Comment

Achondroplasia is a common form of short-limbed short stature. Average heights in adult males with achondroplasia are 131 cm, in adult females 124 cm, including the average-sized trunk in each case. Macrocephaly is associated with prominent forehead and midface hypoplasia with generally normal intelligence. Health problems associated with achondroplasia include short-term respiratory failure and another potentially serious complication, spinal stenosis. Inheritance is autosomal dominant, but approximately 80% of affected individuals have spontaneous mutations. The DNA diagnostic yield is virtually complete, with one of two more commonly found mutations accounting for 98% of the DNA sequence changes.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1152/

 

Synonyms
  • Sy.: most frequent form of short-limb dwarfism
  • Allelic: Bladder cancer, somatic (FGFR3)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Allelic: Hypochondroplasia (FGFR3)
  • Allelic: LADD syndrome (FGFR3)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Naevus, epidermal, somatic (FGFR3)
  • Allelic: SADDAN (FGFR3)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Thanatophoric dysplasia, type I-II (FGFR3)
  • Achondroplasia (FGFR3)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined