Cystic Fibrosis Sequencing

One of the most common inherited diseases, Cystic fibrosis affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up. This accumulation of mucus can impair the pancreas and, the intestine. Progressive mucous build-up in the lungs tends to impair respiration.

CF is inherited in an autosomal recessive manner and affects both males and females. It is caused by a mutation in the gene encoding CFTR on chromosome 7. DeltaF508, the most common mutation, results in the production of a misfolded CFTR protein that is retained in the endoplasmic reticulum and targeted for degradation. We offer sequencing analysis of the entire coding region.

Methodology: Sequencing analysis

Purpose: Confirmation of Clinical Diagnosis/Carrier Testing

ICD-9 Code 277.00/V83.81

Test Requisition: Sequencing Requisition

CPT Code: 81223 full gene sequence Cost: $1623.00
CPT Code: 81221 known familial variant Cost: $333.00

Turn-around-time: 21 days