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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:
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:
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.
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 reference laboratory.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).