Whole-gene molecular genetic testing of 1 copy of the SMN1 gene in spinal muscular atrophy

Sequencing of the SMN1 gene is performed to detect point pathogenic variants in the presence of clinical symptoms characteristic of 5q spinal muscular atrophy and a heterozygous deletion of the SMN1 gene identified by quantitative analysis. In such a case, the remaining SMN1 gene should be sequenced to detect a compound heterozygous state.

Within 10 days. The specified time does not include the day of biomaterial collection