Full gene sequencing is performed which is able to identify 1700 known disease-causing variants associated with Cystic Fibrosis.
PCR amplification is used to detect the CGG repeat expansion of the FMR1 gene down to a single repeat. We can also detect AGG interruptions, which may decrease the size of the CGG repeat expansion when inherited from the mother.
ASPiRA LABS® can detect SMA “silent carriers” by testing for the SMN1 specific haplotype (c.*3+80 T>G ; c.*211_*212del) in concert with a normal copy number of SMN1. “Silent Carriers” are patients with two copies of the SMN1 gene on one chromosome and zero copies on the other ([2+0] configuration). Standard SMA screening counts the number of SMN1 copies only. If a patient has two copies of the SMN1 gene, there is still a chance they are a carrier. ASPiRA LABS® enhanced testing improves detection rates and/or residual risk for SMA “silent carrier” screening.
ASPiRA LABS® offers Pre and Post Test Genetic Counseling Personalized Genetic expertise.
Talk with a genetic expert by phone or video once your test is ordered. We review personal and family health history, answer any questions you may have, and determine if you meet eligibility for test authorization.
Review test results with a genetic counselor or medical geneticist. During this phone or video session, you are provided an opportunity to discuss the results of the test and their implications.
SCHEDULE a genetic counseling consultation
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