CAPN3 基因測試

What is calpainopathy?

Calpainopathy, also known as limb-girdle muscular dystrophy type 2A (LGMD2A), is a genetic disorder characterized by muscle weakness and wasting, particularly in the shoulders, hips, and limbs.

What causes calpainopathy?

Calpainopathy is caused by mutations of the calpain 3 (CAPN3) gene. This disease is inherited in an autosomal recessive pattern, which means both copies of the gene (one from each parent) are mutated for an individual to show signs and symptoms of the condition.

What is this test for?

This test detects mutations in all protein-coding regions of the CAPN3 gene and partial flanking non-coding DNA sequences.

Who should consider this test?

Individuals affected with LGMD with family history of calpainopathy or as suggested by clinical findings.

測試詳情

測試代碼
測試方法
樣本要求
測試所需時間
GCP
桑格 (Sanger) 基因測序
6毫升血(EDTA 管)
30 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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