PRODUCT INFORMATION FOR GENETIC TESTING
Cystic Fibrosis Tests for 23 most common pathogenic variants (mutations) and 89 others, in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. However, rare pathogenic variants have not been analyzed. The 23 variants analyzed in this test are those recommended in the cystic fibrosis screening guidelines published by the American college of medical genetics and the American college of obstetricians and gynecologists. This is a CF screening assay, not intended to the diagnosis of the disease, which does not solely depend on results from a molecular genetic test and should be interpreted in conjunction with the family history and other laboratory and clinical correlations. Spinal Muscular Atrophy This molecular test assesses the number of copies of the SMN1 gene. This test cannot detect individuals, 4% (McAndrew PE, et al. Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number. Am. J. Hum. Genet. 60:1411-1422, 1997) who have 2 copies of the SMN1 gene on one chromosome 5 and no SMN1 gene on the other paired chromosome 5, nor can it detect individuals with intragenic mutations in one copy of the SMN1 gene, 2% of the general population (Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017;129(3):e41-e55). Such individuals are considered carriers. Individuals with two or more copies have a reduced risk to be carriers. Individuals affected with SMA have 0 copies of the SMN1 gene. .The detection rate of this assay varies depending on the ethnicity of the tested individual.
The clinical sensitivity is 96% and specificity is 100%.
SMA carrier status is determined by targeted PCR of chromosome 5, SMN1/SMN2 gene exon 7, as well as intron 19 of the RAB3GAP1 reference gene, with detection by pyrosequencing. This is a gene dosage assay and will not detect intragenic mutations in the SMN1 gene. The clinical sensitivity is 94% and specificity is 100%.
Ashkenazi-Jewish Panel (Bloom syndrome BLM 1, Canavan disease ASPA 4, Familial dysautonomia IKBKAP 2, Fanconi anemia type C FANCC 2, Gaucher disease GBA 7, Mucolipidosis IV MCOLN 1 2, Neimann-Pick disease SMPD1-associated SMPD1 4, Hexosaminidase A deficiency HEXA 7) There are eight genes associated to disorders that commonly occur in Ashkanazi Jewish (Eastern European Jewish) individuals. Since all of these disorders are autosomal recessive, both parents must be carriers for the couple to have an affected child.
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