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Laboratory: Genomics
Test Name:
FGFR3-RELATED SKELETAL DYSPLASIA - FGFR3 GENE - (B)
Test Code: MD
Clinical Information:
Testing done for confirmation of a FGFR3-related skeletal dysplasia (type of skeletal dysplasia suspected must be specified on requisition).  Test limited to common point mutations in FGFR3 gene known to cause Achondroplasia, Hypochondroplasia, and/or Thanatophoric Dysplasia.  All out-of-province testing subjected to final laboratory approval.  For more information, see:

Achondroplasia:  http://ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=achondroplasia
Hypochondroplasia:  http://ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hypochondroplasia
Thanatophoric Dysplasia:  http://ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=td
 
Collection Devices:
Specimen Required:
Blood: 8.0 mL
Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature.  Pediatric volume for infants only.  For prenatal diagnosis, contact laboratory for approval and to obtain specimen requirements. 
Referral:
Requisition:
Reference Values:
An interpretive report from the referral laboratory will be forwarded to the physician.
Availability:
Extracted DNA is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 8 to 10 weeks. Expedited turnaround time, where medically indicated, available upon request.
See Also:
More Information:
Do NOT centrifuge.  Ship blood samples at room temperature to Health Sciences Centre - MS5.  Extracted DNA will be forwarded for testing to a referral laboratory.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).