Cystic Fibrosis(CFTR) Gene Sequencing

Cystic fibrosis (CF) is a life threatening genetic disease affecting children and young adults. CF causes body to produce abnormally thick mucus, leading to life threatening lung infections, digestion problems, diarrhea, poor growth and male infertility. Individuals with mild CF may reach adulthood and be unaware that they have the disease. It is one of the most prevalent genetic disorders in India with an incidence of 1 in 10,000 to 1 in 20,000.

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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