GTR Home > Tests > CFTR-related disorders


Test name


CFTR-related disorders (CF)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Risk Assessment



5 conditions tested. Click Indication tab for more information.


Molecular Genetics
LLinkage analysis
SNP Detection
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
TTargeted variant analysis
CFTR InPlex kit

Summary of what tested

1 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity


Not provided

Clinical utility


Not provided

How to order


4 mL EDTA whole blood, shipped at room temperature
Order URL Help:

Test services

  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Suggested reading

Clinical resources

Practice guidelines

  • CPIC, 2014
    Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Ivacaftor Therapy in the Context of CFTR Genotype
  • CDC MMWR 2012
    Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
  • ACOG, 2011
    ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
  • ECFS, 2010
    Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
  • CPGPT/CF FPT Committees, 2010
    Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
  • ACMG ACT Sheets, 2010
    ACMG ACT Sheets and Confirmatory Algorithms
  • CFF, 2009
    Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
  • CFF, 2009
    Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
  • ACOG, 2009
    ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
  • ACMG, 2008
    Carrier screening in individuals of Ashkenazi Jewish descent
  • NSGC, 2005
    Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
  • ACMG, 2004
    Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
  • ACMG Lab QA, 2002
    Standards and guidelines for CFTR mutation testing.
  • ACMG / ACOG, 2001
    Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
  • DailyMed Drug Label, 2012

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