Cystic fibrosis mutation screening

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 

Test Specifications

Test Code
Methodology
Specimen Requirements
Turnaround Time
GCF
Sanger sequencing
10 mL amniotic fluid; or 20 mg chorionic villi; or 3 mL blood in EDTA tube
5 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

How to get started

Our tests must be ordered by a doctor. Ask your doctor if a Mygenia test is right for you. We can help you find a doctor if you don’t have one.

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