Genetic Diseases

Genetic Testing for Cystic Fibrosis (CF)

CF is an autosomal recessive multisystem disease affecting lungs, pancreas and digestive system.

Genetic Diseases

What is CF?

Defective CFTR channel producing thick mucus.

Symptoms

Recurrent lung infections, pancreatic insufficiency, growth failure.

Genetic causes

CFTR gene mutations.

Inheritance pattern

Autosomal recessive.

Important genes

CFTR.

Who should be tested?

Couples before pregnancy and relatives of affected patients.

Recommended tests

CFTR sequencing, MLPA.

Counseling

PGT-M and reproductive risk counseling.

Frequently Asked Questions

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Gene Negar Ayandegan · Genetic Testing for Cystic Fibrosis (CF)