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.

Test Price: ₹6500.00

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

Complete insight into your health today, bridged with the answers for Tomorrow

How it Works
Order a Kit

Order and receive Saliva Collection Kit
 

Collect Your Sample

Collect the Saliva sample from your mouth

Lab Processing

Expert scientific team for highly accurate results

Get Your Reports

Find full results in your Genes2Me account

Genetic Counseling

Pre & post test counseling with a Genetic Expert

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