Test Guide

Cystic Fibrosis Test Selection Guide

This test guide differentiates the various cystic fibrosis tests offered by Quest Diagnostics. It is intended to help physicians select the optimum test for their patient.

Cystic Fibrosis Test Selection Guide

This Guide is intended to help providers choose the appropriate cystic fibrosis (CF) test for their patients. Algorithms are included to assist with test selection for CF carrier screening (Figure 1) and diagnosis (Figure 2) using tests offered by Quest Diagnostics (Table). This guide is provided for informational purposes only and is not intended as medical advice. Test selection and interpretation, diagnosis, and patient management decisions should be based on the provider’s education, clinical expertise, and assessment of the patient. Call 1.866.GENE.INFO (1.866.436.3463) for assistance from a genomic science specialist.

Figure 1. Cystic Fibrosis Carrier Screening

Figure 2. Cystic Fibrosis Diagnosis

Table. Cystic Fibrosis Tests Offered by Quest Diagnostics

Test code	Test name	Clinical application
92068	CFvantage® Cystic Fibrosis Expanded Screena,b	Pan-ethnic screen for carrier status and assessment of CF risk for individuals who are pregnant or planning a pregnancy and the reproductive partners of confirmed CF carriers; includes 161 CF-causing variants; provides increased detection rates compared to the 32-variant screen and can be ordered for fetal specimens (Figure 1) Diagnose CF in individuals with clinical suspicion (Figure 2, Option 1)
10226	Cystic Fibrosis DNA Analysis, Fetusa,b	Diagnose CF in a fetus when parents are known CF carriers; includes 32 CF-causing variants
10917	Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequencea	Diagnose CF in individuals with clinical suspicion; identify a familial variant in individuals with a family history of CF when no variants were detected in a screening assay; includes poly-T analysis (Figure 2, Option 2)
16080	Cystic Fibrosis Gene Deletion or Duplicationa	Diagnose CF in symptomatic individuals when only 1 or no variants were detected in a sequencing assay; determine carrier status or diagnose CF when there is a known familial CF-causing gene deletion or duplication (Figure 2, Option 2)
10913	Cystic Fibrosis Rare Variant Analysis, One Exona,b	Identify 1 known familial variant when it is not included in a screening assay^c
10915	Cystic Fibrosis Rare Variant Analysis, Two Exona,b	Identify 2 known familial variants when neither are included in a screening assay^c
15053	CFTR Intron 8 Poly-T Analysisa	Differentially diagnose nonclassic CF (CBAVD, idiopathic pancreatitis, bronchiectasis, etc); used in conjunction with Cystic Fibrosis Screen or CFvantage Cystic Fibrosis Expanded Screen3
15335	Cystic Fibrosis D1152H Mutation Analysisa,b	Identify disease-causing variant in individuals with CBAVD or mild CF symptoms; primarily present in individuals with Ashkenazi Jewish ancestry4

CBAVD, congenital bilateral absence of the vas deferens; CF, cystic fibrosis.
a	This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the US Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
b	For prenatal diagnosis with a fetal specimen, contact your local Quest genomic science specialist or call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) before submission.
c	Documentation of known familial variant(s) must be provided.

References

American College of Obstetricians and Gynecologists' Committee on Genetics. Committee opinion no. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41-e55. doi:10.1097/aog.0000000000001952
Deignan JL, Astbury C, Cutting GR, et al. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22(8):1288-1295.
doi:10.1038/s41436-020-0822-5
Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017;181S:S4-S15.e1. doi:10.1016/j.jpeds.2016.09.064
Kornreich R, Ekstein J, Edelmann L, et al. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med. 2004;6(5):415-20. doi:10.1097/01.gim.0000139510.00644.f7

Content reviewed 8/2025

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Related tests (8)

92068 - CFvantage^® Cystic Fibrosis Expanded Screen

The CFvantage® Cystic Fibrosis Expanded Screen analyzes an expanded number of variants that have been proven to cause Cystic Fibrosis (CF). ACOG recommends screening for all women of reproductive age and for those with a personal or family history of CF.

16080 - Cystic Fibrosis Gene Deletion or Duplication

This test detects large deletion or duplication copy number variants in the CFTR gene in CF patients or patients with the potential diagnosis of CF where only one or no pathogenic variants have been identified. Large deletions and duplications comprise only a very small percentage of variants in the CFTR gene. As a result, this test is not recommended as a first-line test unless a specific known familial deletion or duplication has been identified. It is best used either as a follow up or in conjunction with full gene sequencing. It is not recommended for routine carrier screening.

The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If there are questions about which test is most appropriate, or if a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options and/or contact 866-GENE-INFO (866-436-3463) for assistance.

15335 - Cystic Fibrosis D1152H Mutation Analysis

This test detects the D1152H (c.345G>C) variant in the CFTR gene that is primarily present in Ashkenazi-Jewish individuals. It is associated with a wide range of clinical outcomes, from asymptomatic to severe lung disease. It does not look for any other variants in the CFTR gene and is not recommended for routine carrier screening.

The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If there are questions about which is most appropriate, or if a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options and/or contact 866-GENE-INFO (866-436-3463) for assistance.

15053 - CFTR Intron 8 Poly-T Analysis

This test is utilized for the following indications:
1) To evaluate individuals having phenotypes associated with mild forms of cystic fibrosis, congenital absence of the vas deferens (CBAVD), idiopathic pancreatitis, bronchiectasis, etc.
2) To confirm a diagnosis of CBAVD in infertile males.
3) To determine the poly T status in individuals positive for the R117H mutation.

Please note: This test detects the intron 8 poly T status in the CFTR gene. It does not evaluate for the TG tract length. If CFTR intron 8 poly T status with TG tract length is desired, single exon testing would be required. This test is not recommended for routine carrier screening. The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If there are questions about which test is most appropriate, or if a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options and/or contact 866-GENE-INFO (866-436-3463) for assistance.

10913 - Cystic Fibrosis Rare Variant Analysis, One Exon

This test is utilized when there is a specific known familial variant in one exon (a specific region of the CFTR gene) that is not included in a targeted cystic fibrosis mutation panel. This test is not recommended for routine carrier screening.

The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If there are questions about which test is most appropriate, or if a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options and/or contact 866-GENE-INFO (866-436-3463) for assistance.

10915 - Cystic Fibrosis Rare Variant Analysis, Two Exon

This test is utilized when there are specific known familial variants in two exons (specific regions of the CFTR gene) that are not included in a targeted cystic fibrosis mutation panel. This test is not recommended for routine carrier screening.

The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If there are questions about which test is most appropriate, or if a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options and/or contact 866-GENE-INFO (866-436-3463) for assistance.

10226 - Cystic Fibrosis DNA Analysis, Fetus

Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent, with an incidence of approximately 1 in 3300 births and a carrier rate of 1 in 29. This test is appropriate to determine if the fetus has inherited known mutations, limited to the general cystic fibrosis mutation panel, from both parents.

10917 - Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence

This test analyzes variants that account for greater than 98% of disease-causing variants. Cystic fibrosis gene sequencing is appropriate for individuals suspected of having cystic fibrosis (CF) but for whom both variants have not been identified with conventional targeted variant testing. CF sequencing as a first line test may also be useful in situations where an individual is symptomatic for CF and initial targeted screening is not desired.

CF sequencing is not recommended as a first-tier test for routine carrier screening for couples who are pregnant or intending to become pregnant. The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If there are questions about which test is most appropriate, or if a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options and/or contact 866-GENE-INFO (866-436-3463) for assistance.

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Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The tests listed by specialty and category are a select group of tests offered. For a complete list of Quest Diagnostics tests, please adjust the filter options chosen, or refer to our Directory of Services.