脊髓性肌肉萎縮症遺傳基因測試

What is spinal muscular atrophy?

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMA is the second most common lethal autosomal recessive disorder in Caucasians, after cystic fibrosis.

What causes spinal muscular atrophy?

Spinal muscular atrophy is caused by deletions/duplications of one or more sequences in the SMN1 and SMN2 gene. This disease is inherited in an autosomal recessive pattern, which means having both copies of the SMN1 gene in each cell have the mutations. The parents of an individual with an autosomal recessive condition are carriers of the condition which each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Extra copies of the SMN2 gene are due to a random error when making new copies of DNA (replication) in an egg or sperm cell or just after fertilization.

What is this test for?

This test detects the copy number changes in exon 7 and 8 of the SMN1 and SMN2 genes which associated with spinal muscular atrophy.

Who should consider this test?

  1. Individuals with signs and symptoms of spinal muscular atrophy as suggested by clinical findings
  2. Individuals with family history of spinal muscular atrophy

測試詳情

測試代碼
測試方法
樣本要求
測試所需時間
GSM
多重鏈接探針擴增技術 (MLPA)
6 mL blood in EDTA tube
14 日

Rejection criteria

  • Specimen without proper labeling
  • Specimen not in requested format or insufficient quantity
  • Specimen in container expired for more than 1 month
  • Container leakage
  • Sampling date is more than 7 days
  • Frozen specimen, haemolysed or clotted blood specimen

Factor(s) known to affect results

  • Improper collection, handling and storage of specimen

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