囊腫性纖維化遺傳基因測試

What is cystic fibrosis?

Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. It can lead to progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity vary among affected individuals.

How common is cystic fibrosis?

Cystic fibrosis is fairly common among Caucasians. It occurs in 1 in 2,500 to 3,500 newborns. However, this disease has rarely been reported in the Chinese population.

What causes cystic fibrosis?

Cystic fibrosis is caused by mutations in the CFTR 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 4 common mutations of the CFTR gene that are associated with cystic fibrosis.

Who should consider this test?

  • Family planning for couples at risk in cystic fibrosis
  • Prenatal diagnosis 

測試詳情

測試代碼
測試方法
樣本要求
測試所需時間
GCF
桑格 (Sanger) 基因測序
10 mL amniotic fluid; or 20 mg chorionic villi; or 3 mL blood in EDTA tube
5 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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