CFTR Gene Sequencing (Exon 11 & 12) With MCC

CFTR Gene Sequencing (Exon 11 & 12) With MCC

Test Overview
The CFTR Gene Sequencing (Exon 11 & 12) With MCC test analyzes Exons 11 and 12 of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene to identify disease-causing genetic variants. The test includes MCC (Mutation Confirmation by Coverage/Control Check) to enhance result accuracy and reliability.

Why is this test done?

• Detect mutations associated with Cystic Fibrosis (CF).
• Evaluate individuals with symptoms suggestive of CF.
• Confirm suspected CFTR-related disorders.
• Carrier screening for individuals with a family history of CF.
• Support reproductive and genetic counseling.
• Aid in diagnosis of male infertility related to Congenital Bilateral Absence of the Vas Deferens (CBAVD).

Symptoms that may require testing

• Persistent respiratory infections
• Chronic cough or wheezing
• Poor weight gain despite adequate nutrition
• Frequent greasy or bulky stools
• Pancreatic insufficiency
• Elevated sweat chloride levels
• Male infertility due to CBAVD
• Family history of cystic fibrosis

Sample Required

• Sample Type: Peripheral Blood
• Container: EDTA Tube

Preparation

• No fasting or special preparation is required.

Benefits

• Early and accurate genetic diagnosis.
• Identifies pathogenic variants in Exons 11 & 12 of the CFTR gene.
• Assists clinicians in treatment planning and prognosis.
• Supports carrier detection and prenatal risk assessment.
• Useful for family screening and genetic counseling.

Who should consider this test?

• Individuals with suspected cystic fibrosis.
• Patients with unexplained recurrent lung or pancreatic disease.
• Couples planning pregnancy with a family history of CF.
• Individuals with infertility linked to CFTR mutations.
• Family members of patients diagnosed with cystic fibrosis.

Note: Genetic test results should always be interpreted by a qualified healthcare professional or clinical geneticist in conjunction with clinical findings and family history.