Institute of Genomic Medicine
Spinal Muscular Atrophy
Spinal Muscular Atrophy is a recessively inherited neuromuscular disease characterized by degeneration of the motor neurons. SMA is the second most common autosomal recessive disorder after Cystic Fibrosis. SMA is the primary cause of infant mortality in children under the age of two. Estimated 1 in 6,000 -10,000 are affected with SMA. SMA affects all ethnicities. Subsequently, the ACMG has recommended that SMA Carrier Testing be made available to all couples “regardless of race or ethnicity”. ACOG Committee Opinion recommends SMA testing for patients who ask for the test.
Clinical Presentation:
- Loss of muscle control (breathing, swallowing, head and neck control, walking and crawling)
- Age of onset range: before birth to adolescence and onto young adulthood>
- Diverse Clinical spectrum
SAMPLE REQUIREMENTS: |
Blood: 3-5 ml purple top (EDTA) vacutainer of whole blood inverted several times to mix. Forward within 48 hours at room temperature. Please consult the lab for tissue or body fluid submission. |
Amniotic Fluid: 10-15 ml amniotic fluid from 14th-17th week of gestation or one confluent T25 flask of cultured cells. Send specimen refrigerated, but not frozen (do not ship on dry ice). Please use an overnight courier service. |
| Test Method: Real time PCR |
| Turn around time: 5-7 days |
| Report: Copy number analysis of SMN |
