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Laboratory:

Genomics

Test Name:

X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS (CSNB) - CACNA1F GENE - (B)

Test Code: MD

Clinical Information:

Testing done for confirmation of clinical diagnosis in males of Mennonite descent. Asymptomatic testing available for at-risk females with documented positive family history; prior consultation with the WRHA Genetics & Metabolism Program strongly recommended. 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=csnb

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.

Referral:

Requisition:

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

Reference Values:

An interpretive report from the reference 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 12 to 14 weeks.