| Laboratory: | Genomics | ||||
| Test Name: |
CRANIOSYNOSTOSIS PANEL (SYNDROMIC AND NON-SYNDROMIC FORMS) - FGFR1, FGFR2, FGFR3, TWIST1 GENES - (B)
Test Code:
MD
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| Clinical Information: |
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:
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=scs |
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| Collection Devices: |
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| Specimen Required: |
Blood: 8.0 mL
Pediatric Blood: 3.0 mL
Specimen must be kept at room temperature. Pediatric volume for infants only. |
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| Referral: |
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| Requisition: | |||||
| Reference Values: |
An interpretive report from the referral laboratory will be forwarded to the physician.
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| Availability: |
Extracted DNA is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 12 to 14 weeks.
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| See Also: | |||||
| More Information: |
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.
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