Cystic Fibrosis Testing
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Defines medical necessity, coverage conditions, and limitations for cystic fibrosis (CF) genetic and diagnostic testing for CareSource Arkansas PASSE members, including carrier, diagnostic, and limited fetal testing indications.
No material clinical or coverage changes in this revision.
Coverage and Medical Necessity Criteria
inv-01: CF Testing Criteria
Covered when the following criteria are met:
ANY of the following
- Diagnostic testing is medically necessary if the member has a clinical presentation of cystic fibrosis (CF).
- Diagnostic testing is medically necessary for infertility due to oligospermia, azoospermia, or congenital bilateral absence of the vas deferens (CBAVD).
- Diagnostic testing is medically necessary for an infant with meconium ileus or other symptoms indicative of CF who is unable to produce adequate sweat for a sweat chloride test.
- Diagnostic testing is medically necessary for an infant with an elevated immunoreactive trypsinogen (IRT) on newborn screening and a sweat chloride ≥ 60 mmol/L or intermediate sweat chloride (30–59 mmol/L).
Carrier Screening Indications
- Member who is pregnant or of reproductive age with intent and potential to procreate.
- Member whose partner tests positive while the member is pregnant or intending to become pregnant.
- Member with a family history of cystic fibrosis (CF).
- Members where both parents are CF carriers.
Not Medically Necessary / Exclusions
- Repeat testing for the same CFTR panel is not covered.
- Gene sequencing of genes other than CFTR is not covered.
Fetal Testing (Limited Circumstances)
- Fetal testing is medically necessary when both parents have disease-causing CFTR mutations.
- Fetal testing is medically necessary if echogenic bowel is detected on fetal ultrasound.
- Fetal testing is medically necessary when the mother is a confirmed CF carrier and the father is unknown or unavailable for testing.
Indications for Covered Testing
inv-09: Diagnostic testing for symptomatic individuals, certain infertility presentations (CBAVD), and infants with positive newborn screening or meconium ileus
Diagnostic genetic testing for CF is covered when any of the following apply:
ANY of the following
- Member has clinical features consistent with cystic fibrosis (CF).
- Member presents with infertility characterized by oligospermia, azoospermia, or congenital bilateral absence of the vas deferens (CBAVD).
- Infant has meconium ileus or other signs suggestive of CF and is unable to produce sufficient sweat for sweat chloride testing.
- Infant has an elevated IRT on newborn screening and a sweat chloride ≥ 60 mmol/L or an intermediate sweat chloride (30–59 mmol/L).
Notes
- All genetic testing for CF should use currently recommended ACMG CFTR panels; CF testing should generally be performed once in a lifetime and results documented in the member's health record.
Prior testing/documentation
- Results of newborn screening (IRT) and sweat chloride testing, or documentation of clinical presentation or affected sibling, are part of the diagnostic pathway requirements.
Exclusions
- Repeat testing for the same CFTR panel is not covered.
- Gene sequencing of genes other than CFTR is not covered.
inv-10: Carrier screening for pregnant or reproductive-age individuals, partners of positive testers, those with family history, or when both parents are carriers
Carrier screening is covered when any ONE of the following criteria is met:
Indications
- Member who is pregnant or of reproductive age with intent and potential to procreate.
- Member whose partner tests positive while the member is pregnant or intending to become pregnant.
- Member with a family history of cystic fibrosis (CF).
- Both parents are known CF carriers.
Testing method and frequency
- Use currently recommended ACMG CFTR panels for carrier testing; CF genetic testing should generally be performed once in a lifetime and documented in the member's health record.
Exclusion
- Repeat testing for the same CFTR panel is not covered.
inv-11: Fetal testing in limited circumstances (both parents affected, echogenic bowel, or mother confirmed carrier with unknown/unavailable father)
Fetal testing is generally not covered except in these limited circumstances:
ANY of the following
- Both parents have disease-causing mutations of the CFTR gene.
- Echogenic bowel is detected on fetal ultrasound during pregnancy.
- Mother is a confirmed CF carrier and the father is unknown or unavailable for testing.
Coverage stance
- Fetal testing outside of the specified indications is not considered medically necessary and will not be covered.
Coding, Thresholds, and External References
| No codes listed |
Key Definitions
Member Eligibility and Required Documentation
Family history is an accepted indication for cystic fibrosis (CF) genetic evaluation. Members with a family history of CF qualify for carrier screening or diagnostic evaluation when clinically relevant, including when planning pregnancy or when a family member is known to be a carrier or affected.
Diagnostic evaluation for CF should incorporate newborn screening results and objective diagnostic testing or documentation of a compatible clinical presentation. Results such as elevated immunoreactive trypsinogen (IRT) on newborn screening, sweat chloride testing results, or documented clinical features/sibling with CF are part of the diagnostic pathway and are considered when determining medical necessity for further genetic or diagnostic testing.
Provider Responsibilities and Billing Guidance
Post-payment documentation review
CareSource may request documentation for post-payment review of claims submitted for payment of CF testing and may recoup previously paid claims if documentation is not provided.
Follow related genetic testing and counseling policy
Refer to the related 'Genetic Testing and Counseling' policy for required counseling procedures and processes associated with CF testing.
No provider-type ordering restriction specified
This policy does not specify restrictions on which provider types may order CF testing; providers should follow the plan and the related 'Genetic Testing and Counseling' policy for any ordering limitations.
Services and Tests Not Covered
Repeat testing of the same CFTR panel is not covered. Claims for duplicate or repeat analysis using the same CFTR panel will be considered not medically necessary and will not be paid.
Sequencing or genetic testing of genes other than CFTR for the purpose of diagnosing or screening for cystic fibrosis is not covered. Medical necessity is limited to CFTR-focused analysis unless otherwise specified.
Fetal testing is generally considered not medically necessary and is therefore not covered, except in specified circumstances. Covered fetal testing is limited to situations where: both parents have disease-causing CFTR mutations; an echogenic bowel is detected on fetal ultrasound; or the mother is a confirmed carrier and the father is unknown or unavailable for testing.
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