Diagnosis; Pre-symptomatic; Risk Assessment

Concerning the four SLSJ diseases, the clinical validity of carrier tests is well established because:  the target population is known and homogeneous;  the genes involved are known and unique;  the frequency of causal alleles is known and high (see Table 2);  the number of responsible mutations … Concerning the four SLSJ diseases, the clinical validity of carrier tests is well established because:  the target population is known and homogeneous;  the genes involved are known and unique;  the frequency of causal alleles is known and high (see Table 2);  the number of responsible mutations is limited and their penetrance is high. View more

Establish or confirm diagnosis

Reproductive decision-making

Identification of carrier status in a preconception or prenatal situation Prenatal diagnosis Confirmation diagnosis

SNaPshot (Applied Biosystem)

Tests performed
Entire test performed in-house

Analytical specificity >99%

Detection limit: 4 nanograms of DNA

Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
Laboratoire de santé publique du Québec

Description of PT method: Help
Proficiency testing specimens (4) are tested twice a year with the laboratory's regular workload, using routine methods. The analytes evaluated correspond to each of the five pathogenic variants associated with four recessive hereditary diseases that are overprevalent in people from the Saguenay-Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions.