Lab Information Manual

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:

Preferred Device:	2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	6 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

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:

_SH Molecular Diagnostic Lab Test Requisition (R250-10-09)

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.