In some circumstances, specimens from other family members may be required.
Lavender (EDTA), 10mL
Ambient (preferred) - 2 days
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 samples with one copy of SMN1. Reflex testing to SMN2 copy number analysis is performed for specimens with 0 copies of SMN1.
An interpretive report will be provided