090-71-5570

Cystic Fibrosis Test (CFTR gene) **

Genetics Counseling

Blood/ K3 EDTA (Lavender Top) 6 mL, 1 tube

Document Required:
Completed Requesition Form (Select 1 Panel = Invitae Cystic Fibrosis Test, code: 04714)
& Completed Consent Form

Blood/ K3 EDTA (Lavender Top) 6 mL, 1 tube

Whole blood EDTA, minimum volume 6 mL

Hemolyzed or clotted blood
Blood (or saliva) from patients who have had an allogeneic (non-self donor) bone marrow transplant
Blood (or saliva) from patients who have had an allogeneic (non-self donor) stem cell transplant
Blood (or saliva) from patients who had a blood transfusion less than two weeks prior to specimen collection

Specimen Type Temperature Time
Whole blood EDTA Refrigerated, 2oC to 8oC 14 days
Saliva (2mL) in special collection kit * Ambient 30 days* Optional, Nurse can request the special collection kit from Lab 4th Floor, Tel. 14160-2​
** Sending to USA

090-71-5570

Cystic Fibrosis Test (CFTR gene) **

N/A **Sent out to INVITAE, USA

30 days

INVITAE, USA
Referral Lab Services, Laboratory Department 14160-2

090-71-5570

Cystic Fibrosis Test (CFTR gene) **

Cystic fibrosis (CF) is a complex multisystemic disorder caused by the buildup of thick, viscous secretions on the lining (epithelia) of many different organ systems, which damages organ function over time. Affected individuals often present with pulmonary symptoms, including lower airway inflammation, recurrent pulmonary infections, airway damage, and the buildup of scar tissue in the lungs (lung fibrosis). Pulmonary failure used to be a common cause of childhood morbidity, but with improved preventive treatment, individuals with CF now frequently live into adulthood.

Individuals with CF may also present with digestive problems associated with the pancreas and the intestine. The reduced production of insulin and digestive enzymes by the pancreas (pancreatic insufficiency) can lead to nutritional deficiencies. In infants with CF, excess mucus production in the intestine can cause a blockage called meconium ileus.

CAVD is a disorder that occurs in males; the tubes that carry sperm out of the testes (vas deferens) develop abnormally. Without the assistance of reproductive technology, this disorder results in male infertility. CAVD is sometimes observed in males with CF, though it can also occur independently.

CFTR-related disorders encompasses a broad clinical spectrum from single organ manifestations to individuals with abnormal IRT and/or sweat test results, but mild or absent clinical symptoms.


Clinical sensitivity:
CFTR is the only gene known to be associated with the CFTR-related disorders—cystic fibrosis (CF) and congenital absence of the vas deferens (CAVD). Sequencing identifies more than 98% of CFTR pathogenic variants.