Cystic Fibrosis 40- NGS

About Test

Cystic Fibrosis (CF) is a genetic disorder that affects the respiratory and digestive systems. The CF40-NGS test (also known as the Cystic Fibrosis Next-Generation Sequencing test) is a laboratory test used to diagnose CF by identifying mutations in the CFTR gene, the gene responsible for the disorder.

NGS, or Next-Generation Sequencing, is a modern DNA sequencing technology that enables the rapid and simultaneous analysis of large amounts of genetic information. In the CF40-NGS test, a patient's DNA is extracted from a blood sample and subjected to NGS analysis to identify any mutations in the CFTR gene.

The CF40-NGS test provides a comprehensive evaluation of the CFTR gene, including analysis of the 40 most common CF-causing mutations. The test can provide a definitive diagnosis of CF, as well as inform genetic counseling and medical management decisions for affected individuals and their families.

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