DNA Analysis for Achondroplasia, Hypochondroplasia,
and Nonsyndromic Craniosynostosis
(Fibroblast Growth Factor 3 Receptor (FGFR3) Mutations)
We test for 99% of the mutations associated with achondroplasia (G380R),
60-90% of mutations associated with hypochondroplasia (N540K and K650M),
and approximately 99% of mutations associated with nonsyndromic coronal craniosynostosis (P248C).
Methodology:
PCR based direct mutation analysis for FGFR3 mutations are performed pursuant to a license agreement with Roche Molecular Systems, Inc.
Use:
Prenatal diagnosis and identification of mutations in individuals with a clinical
diagnosis of achondroplasia, hypochondroplasia
Indications:
Confirmation of diagnosis where suspected on basis of clinical findings. Achondroplasia: Large head; bulging forehead; large calvarium; short, cupped ribs and rhizomelic shortening.
Hypochondroplasia: Rhizomelic shortening, normal head to slight prominence of forehead.
Nonsyndromic coronal craniosynotosis.
Specimen Requirements:
Please see Instructions for Shipping and Handling of Specimens.
Turnaround Time:
2-4 weeks (time required for culture of tissue specimens not included.) Cases
are prioritized on an individual basis.