• Test Code: OS094

Test Description

Spinal muscular atrophy(SMA) is one of the most common autosomal recessive diseases as a neuromuscular disease characterized by loss of symmetrical proximal muscle strength due to degeneration of anterior horn cells of the spinal cord or brain stem. Among the SMN1 and SMN2 genes associated with this disease, the SMN1 gene is a major gene related to disease development. 95% of patients are homozygous for the SMN1 gene deletion mutation, and the remaining 5% are heterozygous for the deletion mutation and point mutation. This test is a test to confirm deletion and duplication of exons 7 and 8 of SMN1&SMN2 genes using the MLPA (Multiplex Ligation dependent Probe Amplification) method.

Ordering information

  • Turnaround time: 17 Days
  • Specimen: EDTA WB 3ml
Specimen requirements
Test Requisition Form

Assay information

  • Target Disease: Spinal Muscular Atrophy-1 (MIM: 253300)
  • Analyzed Gene: SMN1 on Chromosome 5q13.2, SMN2 on Chromosome 5q13.2
  • Mode of inheritance: Autosomal Recessive
  • Methods: MLPA (Multiplex Ligation-dependent Probe Amplification)

Result

The test results will be provided according to the designated TAT. Review the sample report to see how the results are structured.

Sample report

Limitations

  • If there is a nucleotide sequence mutation at the MLPA probe attachment site, a false-positive result may be shown.
  • It is impossible to distinguish the normal individuals who have one SMN 1 gene in both alleles (1+1) normally and the carriers who have two SMN1 genes in one allele (2+0). There is no problem in diagnosing the patient, but there is a possibility of a false-negative result that reports carriers (2+0) as normal when tested to screen the carriers.

Verifying more specific details about the Test

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