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

IllnessApert syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Apert syndrome

ID
AS0830
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 +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FGFR22466NM_000141.5AD

Informations about the disease

Clinical Comment

Acrocephalosyndactyly: craniosynostosis, midface hypoplasia, finger + toe anomalies and/or syndactyly

 

Synonyms
  • Alias: Acrocephalosyndactyly V
  • Alias: Acrocephalosyndactyly syndrome, type II
  • Alias: Acrocephalosyndactyly type 1
  • Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Allelic: Bent bone dysplasia syndrome (FGFR2)
  • Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Allelic: Craniosynostosis nonspecific (FGFR2)
  • Allelic: Crouzon syndrome (FGFR2)
  • Allelic: Gastric cancer, somatic (FGFR2)
  • Allelic: Jackson-Weiss syndrome (FGFR2)
  • Allelic: LADD syndrome (FGFR2)
  • Allelic: Lacrimo-auricolo-dento-digital syndrome (FGFR2)
  • Allelic: Pfeiffer syndrome (FGFR2)
  • Allelic: Saethre-Chotzen syndrome (FGFR2)
  • Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Allelic: Scaphocephaly with maxillary retrusion + mental retardation (FGFR2)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined