SMN1 Copy-number Analysis, Arthron-ryposis Multiplex Congenita (Prenatal SMA), Congenital Axonal Neurotherapy, Dubowitz Disease (SMA Type II), Kugelberg-Welander Disease (SMA Type III), Werdnig-Hoffmann Disease (SMA Type I), 450010
Carrier testing for individuals in the general population, or individuals with a family history of SMA, or couples who are planning a pregnancy or who are already pregnant. Pediatric or adult diagnostic testing when a diagnosis of SMA is suspected. Test 452140, Prenatal Spinal Muscular Atrophy (SMA) Testing, should be used for prenatal diagnosis for at-risk pregnancies, when both parents are carriers or when severe joint contractures are found on fetal ultrasound.
Samples for SMN1 copy number analysis should be shipped to Integrated Genetics on the same day as the sample is drawn.
SMN1 copy number analysis does not detect individuals who are carriers of SMA as a result of germline mosaicism; or small intragenic variants within the SMN1 gene; or variants in genes other than SMN1.
False-positive or false-negative results may occur for reasons that include genetic variants, technical handling, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships.