CurrentUnitedHealthcarePolicy CS151PA.J

Carrier Testing Panels for Genetic Diseases (for Pennsylvania Only)

Defines medical necessity and coverage criteria for reproductive carrier screening panels for members in Pennsylvania, including gene-count thresholds, population-specific criteria (Ashkenazi Jewish, family history), recommended tests, coding references, and counseling recommendations. Applies only to Pennsylvania; exceptions evaluated case-by-case per state code.

Policy Summary

PayerUnitedHealthcare

PolicyCarrier Testing Panels for Genetic Diseases (for Pennsylvania Only)

Policy CodePolicy CS151PA.J

Change TypeNo material change

Effective DateSep 1, 2025

Next Review Date

Key ActionDocument Ashkenazi Jewish ancestry or an affected biological first- or second-degree relative when requesting reimbursement for up to 15-gene carrier panels and provide pre-test genetic counseling.

POLICY UPDATE CHANGES

No material changes — has_material_change=false

2Recommended panel tiers

6Max genes (basic)

15Max genes (conditional)

>=16Not medically necessary threshold

CF/SMA/HbACOG-recommended inclusions

Coverage Summary

Defines medical necessity and coverage criteria for reproductive carrier screening panels for members in Pennsylvania. The policy applies only to the state of Pennsylvania and will evaluate requests that do not meet criteria on a case-by-case basis per Pennsylvania Code, Title 55, Chapter 1101. Effective date: September 1, 2025.

Coverage stance is mixed: the policy specifies gene-count thresholds and conditional criteria under which panels are considered medically necessary versus unproven/not medically necessary (see policy details). The policy is identified as current and replaces prior versions as of the effective date.

Panel size thresholds and recommendations

Maximum genes - proven/medically necessary (basic)Up to 6 genes

Maximum genes - proven/medically necessary (conditional)Up to 15 genes when the individual and/or reproductive partner meet ≥1 criterion (Ashkenazi Jewish ancestry OR a biological First- or Second‑Degree Relative affected by a condition on the panel)

Not medically necessary threshold>= 16 genes (panels comprised of 16 or more genes are considered unproven and not medically necessary)

Recommended inclusionsInclude cystic fibrosis (CFTR), spinal muscular atrophy (SMN1), and hemoglobinopathies (per ACOG)

Recommended panel tiersTiering approach: basic panels (≤6 genes); conditional expanded panels (≤15 genes with documented ancestry or family history); panels ≥16 genes not covered

Medical Necessity Criteria

Reproductive Carrier Screening - Medically Necessary Criteria

Reproductive Carrier Screening is covered when ALL of the following are met:

ONE of

Panels up to six genes: Reproductive Carrier Screening Panels of up to six genes are proven and medically necessary.up to 6 genes
Gene-count threshold: up to 6 genes
Panels up to 15 genes
- ONE of
  - Ashkenazi Jewish ancestry (individual/reproductive partner has at least one parent or grandparent of Ashkenazi Jewish descent)
    Document ancestry for reimbursement when panel >6 genes

Not Medically Necessary / Unproven

Coding (CPT / Procedure Codes)

Applicable CPT/Codes (reference list)mixed

0400U	Obstetrics (expanded carrier screening), 145 genes by next generation sequencing, fragment analysis and multiplex ligation dependent probe amplification, DNA, reported as carrier positive or negative.
81412	Ashkenazi Jewish associated disorders genomic sequence analysis panel, must include sequencing of at least 9 genes (ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, SMPD1).
81443	Genetic testing for severe inherited conditions genomic sequence analysis panel, must include sequencing of at least 15 genes (examples listed).
81479	Unlisted molecular pathology procedure

Provider Actions & Requirements

Documentation Required

Document ancestry or family history for panels >6 genes

For reimbursement of up to 15-gene panels, document that the individual and/or their reproductive partner meets at least one qualifying criterion: Ashkenazi Jewish ancestry (at least one parent or grandparent of Ashkenazi Jewish descent) or a biological first- or second-degree relative affected by one or more of the conditions evaluated by the panel.

Documentation Required

Provide genetic counseling

Pre-test genetic counseling is strongly recommended to inform persons being tested about the advantages and limitations of the test prior to ordering carrier screening.

Background, Evidence & Definitions

Carrier screening identifies asymptomatic individuals who may carry variants for autosomal recessive or X-linked conditions that could be passed to children; results can influence reproductive decision-making. Next-generation sequencing (NGS) enables multi-gene panels that analyze multiple genes simultaneously.

Professional society guidance (ACOG, ACMG) recommends screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and hemoglobinopathies for women considering pregnancy, and proposes tiered approaches to panel composition based on carrier frequency thresholds. ACOG and ACMG criteria inform recommended panel design, but panel composition varies widely across laboratories.

Evidence for expanded (larger) panels is evolving: marketed panels range widely in gene content, studies show variable detection yields and clinical utility, and professional groups/assessments note limited standardization and the need for further study to define appropriate gene inclusion and clinical benefit. The policy therefore distinguishes proven/medically necessary panel sizes from unproven, larger panels.

Evidence	Summary
ACOG recommendation
Recommend CF, SMA, hemoglobinopathies for all women considering pregnancy (ACOG 2017/2022, reaffirmed 2023)
Panel size evidence
Panels up to 6 genes proven and medically necessary; up to 15 genes proven when individual or reproductive partner has Ashkenazi Jewish ancestry or a biological first- or second-degree relative affected by a condition on the panel; panels of 16 or more genes are unproven and not medically necessary per policy

Term	Definition
Carrier Screening
Genetic testing that is performed on an individual who does not have any symptoms of a genetic disorder to determine whether that individual may have a genetic variant associated with a certain disorder that could be passed to biological children.
First-Degree Relative
First-Degree Relatives include parents, siblings, and children.
Second-Degree Relative
Second-Degree Relatives include half-siblings, aunts, uncles, grandparents, grandchildren, and nieces/nephews.
Gene Panel
Testing panel that looks for genetic changes/variants in more than one gene in the same test.

Revision History

2025-09-01policy_effectiveLatest

Policy effective date: Carrier Testing Panels for Genetic Diseases (Pennsylvania) became effective September 1, 2025.

2025-09-01last_review

Policy last reviewed: Definitions and supporting information updated; previous version archived.

Policy Summary

PayerUnitedHealthcare

PolicyCarrier Testing Panels for Genetic Diseases (for Pennsylvania Only)

Policy CodePolicy CS151PA.J

Change TypeNo material change

Effective DateSep 1, 2025

Next Review Date

On This Page

Affected first- or second-degree relative: A biological First- or Second-Degree Relative has been affected by one or more of the conditions evaluated by the panel

Document affected biological first- or second-degree relative for reimbursement when panel >6 genes

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General Recommendations

Advisory and recommended practices:

All

Pre-test genetic counseling is strongly recommended to inform persons being tested about advantages and limitations of the test
Advisory: strongly recommended
Include CFTR and SMN1: It is strongly recommended that reproductive Carrier Screening Panels include screening for cystic fibrosis (CFTR) and spinal muscular atrophy (SMN1)
Advisory: recommended inclusion
Include hemoglobinopathies: It is recommended to include screening for hemoglobinopathies (e.g., thalassemias) consistent with ACOG guidance
Advisory: recommended inclusion

Prior Authorization

Case-by-case evaluation for exceptions

Any requests for services that do not meet the policy criteria will be evaluated on a case-by-case basis per Pennsylvania Exceptions (Pennsylvania Code, Title 55, Chapter 1101).