Cystic Fibrosis Screening

It is a highly multiplexed panel for screening clinically significant 72 common mutations in the CFTR gene. This panel also includes 5T variant which is a common mild variant occurring in 1 in 10 individuals in the general population.

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What it screens?

It is an investigation performed during pregnancy in the second trimester to classify a patient as either high-risk or low-risk for chromosomal abnormalities (and neural tube defects).

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The below table shows a list of 72 common CFTR mutationsincluded in the Panel in which 23 are ACMG/ACOG recommended mutations and the other 49 are the most common variants with known relevance.

Who should be screened ?

Patients with positive sweat test results. Infant or child presenting with symptoms like diarrhea, malnutrition, poor growth, and weight loss.

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Individuals with symptoms like chronic coughing, wheezing, and inflammation
Abnormal prenatal ultrasound findings (like hyperechogenic fetal bowel) during routine pregnancy tests.
Any carrier or CF affected individual in family.
Male Parent presentingsymptoms of infertility.
Couples who are married within family

Benefits

FREE Sample Collection

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Accurate Reporting

Fast TAT

Stringent QC