CRANIOSYNOSTOSIS PANEL (SYNDROMIC AND NON-SYNDROMIC FORMS) - FGFR1, FGFR2, FGFR3, TWIST1 GENES - (B)
Test Code: MD
Testing done for confirmation of clinical diagnosis of FGFR-related or TWIST-related craniosynostosis. Testing request limited to medical geneticists and other specialists. Testing includes sequencing of exons 8 & 10 of FGFR2, sequencing of TWIST1, and selected point mutations in FGFR1 and FGFR3. All out-of-province testing subjected to final laboratory approval. For more information, see:
Blood: 8.0 mL
Pediatric Blood: 3.0 mL
Specimen must be kept at room temperature. Pediatric volume for infants only.
An interpretive report from the referral laboratory will be forwarded to the physician.
Extracted DNA is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 12 to 14 weeks.
Do NOT centrifuge. Store and ship blood samples at room temperature to Health Sciences Centre - MS5 for analysis. Specimens sent for Molecular Tests are not to be used for other tests (ie. CBC). Extracted DNA will be forwarded for testing to an out-of-province laboratory.