Screening

Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).
For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0). SMN2 copy number analysis is automatically performed when 0 copies of … For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0). SMN2 copy number analysis is automatically performed when 0 copies of SMN1 are detected. View more
For premutation carriers with 55-90 CGG repeats, reflex AGG analysis will be automatically performed and reported with the Fragile X results.

Tests performed
Entire test performed in-house

Analytical sensitivity is estimated to be >99% for single nucleotide variants, >99% for insertions/deletions less than six base pairs and >98% for insertions/deletions between six and fifteen base pairs. SMN1: This test is greater than 99% sensitive for detecting the targeted mutation(s) specified. FMR1: The analytical sensitivity of this assay … Analytical sensitivity is estimated to be >99% for single nucleotide variants, >99% for insertions/deletions less than six base pairs and >98% for insertions/deletions between six and fifteen base pairs. SMN1: This test is greater than 99% sensitive for detecting the targeted mutation(s) specified. FMR1: The analytical sensitivity of this assay for the detection of expanded alleles in the FMR1 gene is estimated to be >99%. View more

Is proficiency testing performed for this test? Help
No