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cystic-fibrosis-screening

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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cystic-fibrosis-screening
What it screens?
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 ?
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

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