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Spinal Muscular Atrophy (SMA) Carrier Testing
- 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)
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. Prenatal diagnosis for at-risk pregnancies, when both parents are carriers or when severe joint contractures are found on fetal ultrasound.
This copy number analysis does not detect individuals who are carriers of SMA as a result of either two (or very rarely three) copies of the SMN1 gene on one chromosome and the absence of the SMN1 gene on the other chromosome; or germline mosaicism; or small intragenic mutations within the SMN1 gene; or mutations in genes other than SMN1. False-positive results or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.
After DNA is isolated, exon 7 of the SMN1 gene and internal standard reference genes are amplified by real-time polymerase chain reaction (PCR). A mathematical algorithm calculates SMN1 copy numbers of 0, 1, 2, or 3 with statistical confidence. To rule out the presence of sequence variants that could interfere with analysis and interpretation, sequence analysis of primer and probe binding sites is performed for postnatal samples with one copy of SMN1 and for all fetal samples. Reflex testing to SMN2 copy number analysis is performed for affected fetus with 0 copies of SMN1.
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by deletions or, less often, point mutation(s) in the SMN1 gene, leading to a reduction in the amount of survival motor neuron (SMN) protein. SMA is characterized by the progressive degeneration of the lower motor neurons, leading to muscle weakness and, in the most common type, respiratory failure by age two. Muscles responsible for crawling, walking, swallowing, and head and neck control are the most severely affected. The SMN2 gene is adjacent to SMN1 and encodes low levels of the SMN protein. An increase in SMN2 copy number (3+) may reduce disease severity among affected individuals.
Whole blood, cultured amniotic fluid, or cultured chorionic villus sample (CVS)
Adults: 10 mL whole blood; 30 mL whole blood if ordering multiple tests. Amniotic fluid: One T-25 flask of confluent cells. CVS: One T-25 flask of confluent cells. If cultured at another facility please maintain back-up cultures.
Amniotic fluid: Discard first 2 mL; then 15 mL amniotic fluid in 15 mL orange-top polypropylene tube. If cultured at another facility: 1 T-25 flask of confluent cells.
Maintain specimen at room temperature.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; blood specimens more than three days post draw
For prenatal testing: LabCorp clients call 800-345-4363, Integrated Genetics clients call 800-848-4436 to speak to a laboratory genetic coordinator before collecting specimens. In some circumstances, specimens from other family members may be required. All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for analysis of the specimen for possible maternal cell contamination. Cultures are required for prenatal SMA testing.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|450010||SMN1 Copy Number Analysis||450001||Genetic Counselor:||N/A|
|450010||SMN1 Copy Number Analysis||450002||Client Specimen ID:||48767-8|
|450010||SMN1 Copy Number Analysis||450003||Specimen Type:||31208-2|
|450010||SMN1 Copy Number Analysis||450004||Specimen(s) Received:||74384-9|
|450010||SMN1 Copy Number Analysis||450005||Clinical Data:||42349-1|
|450010||SMN1 Copy Number Analysis||450006||Ethnicity:||42784-9|
|450010||SMN1 Copy Number Analysis||450007||SMA Results:||41053-0|
|450010||SMN1 Copy Number Analysis||450008||SMA Interpretation:||35462-1|
|450010||SMN1 Copy Number Analysis||450009||Comments:||48767-8|
|450010||SMN1 Copy Number Analysis||450111||Carrier Detection Rate:||N/A|
|450010||SMN1 Copy Number Analysis||450011||Method/Limitations:||49549-9|
|450010||SMN1 Copy Number Analysis||450012||References:||69549-4|
|450010||SMN1 Copy Number Analysis||450013||Disclaimer:||62364-5|
|450010||SMN1 Copy Number Analysis||450014||Electronically Signed by:||N/A|
|450010||SMN1 Copy Number Analysis||450015||SMN1 Copy Number Analysis PDF||51969-4|
|Reflex Table for SMA Results:|
|Order Code||Order Name||Result Code||Result Name||UofM||Result LOINC|
|Reflex 1||451790||SMN2 Copy Number Reflex||451788||SMN2 Copy Number Reflex||54449-4|