DMD 基因刪除及改變鑒別測試

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness and wasting that affects skeletal and heart muscles. This disease occurs almost exclusively in males. It appears in early childhood and worsens rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking. They are usually wheelchair-dependent by adolescence. This disease is also associated with heart problems, which can worsen rapidly after onset and become life-threatening.

What causes Duchenne muscular dystrophy?

The majority of Duchenne muscular dystrophy is caused by deletions or duplications of protein-coding regions (exons) of the DMD gene. This disease is inherited in an X-linked recessive pattern, which means males (who have only one X chromosome) having one mutated copy of the gene show signs and symptoms of the condition. Females with one mutated copy of the gene typically do not show any symptoms but are carriers of mutation. They have a 50 % chance of passing on the mutation to their sons, which will be affected by the disease.

What is this test for?

This test detects deletions/duplications in the protein-coding regions of the DMD gene associated with Duchenne muscular dystrophy.

Who should consider this test?

  • Individuals with signs and symptoms of Duchenne muscular dystrophy as suggested by clinical findings
  • Individuals with family history of Duchenne muscular dystrophy


多重鏈接探針擴增技術 (MLPA)
6毫升血(EDTA 管)
7 days

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