Test Directory

Test Code
6CFTR
Test Name
Cystic Fibrosis Carrier Screening
CPT Codes
81220
Clinical Utility
Genetic analysis to identify individuals at risk of having a child with Cystic Fibrosis. Recommended for all women who are pregnant or are considering pregnancy, per ACOG guidelines, and for individuals with a family history of Cystic Fibrosis.
Specimen and Container Info

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.


NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours.  
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours

Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
  • CFTR
  • CF
  • Cystic Fibrosis
Description

This test is designed to detect carriers of cystic fibrosis. Cystic fibrosis (CF) is an autosomal recessive disorder of variable severity that affects the pulmonary system, digestive system, and other organ systems. Clinical features of CF include progressive lung disease, pancreatic insufficiency, male infertility, and elevated sweat chloride levels. Severely affected individuals may require lung transplantation and have shortened life expectancies, primarily due to respiratory failure. Other individuals have milder symptoms, including some males in whom the only finding is infertility due to congenital absence of the vas deferens (CAVD). Cystic fibrosis (MIM 219700) and CAVD (MIM 277180) are caused by pathogenic variants in the CFTR gene (NM_000492). Individuals with a heterozygous pathogenic variant in CFTR are carriers for cystic fibrosis/CAVD and are at risk of having a child with the disorder. If both reproductive partners are cystic fibrosis carriers, the risk for cystic fibrosis in their children is 25%. Cystic fibrosis has a high incidence in non-Hispanic white populations (approximately 1 in 2500 individuals), and a lower prevalence in other ethnic groups. Approximately 70% of CF carriers in non-Hispanic white populations carry the p.Phe508del (deltaF508) pathogenic variant. The American College of Obstetrics and Gynecology (ACOG) recommends offering cystic fibrosis carrier screening to all women who are pregnant or considering pregnancy. This test is intended for pre/post-conception carrier screening and is not intended for diagnostic testing.

Testing Schedule
Monday-Friday
Genes
CFTR
MIM
219700, 277180