CurrentUnitedHealthcarePolicy CS017PA.AA

Chromosome Microarray Testing (Non-Oncology Conditions) (Pennsylvania)

UnitedHealthcare Pennsylvania medical policy governing chromosome microarray testing (CMA) including array comparative genomic hybridization (aCGH) and SNP array for non-oncology conditions; defines medically necessary indications, recommendations for genetic counseling, and lists applicable procedure and diagnosis codes for reference.

Policy Summary

PayerUnitedHealthcare

PolicyChromosome Microarray Testing (Non-Oncology Conditions) (Pennsylvania)

Policy CodePolicy CS017PA.AA

Change TypeRevised ICD-10 code list (policy history)

Effective DateFeb 1, 2026

Next Review DateN/A

Key ActionObtain comprehensive pretest and posttest genetic counseling and document informed consent, including discussion of VUS, incidental findings, non-paternity, and reporting preferences.

SourceLink

POLICY UPDATE CHANGES

Updated list of applicable ICD-10 diagnosis codes to reflect annual edits: added Q89.89, Q99.89, QA0.0159, QA0.8; removed Q89.8 and Q99.8.

8Listed Medically Necessary Indications

1State-specific Policy (PA only)

manyReference ICD-10 Codes Listed

15.3%CMA diagnostic yield in fetal CHD (Lu et al. 2024)

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8.3%Karyotype diagnostic yield in fetal CHD (Lu et al. 2024)

Coverage Summary

This policy is the UnitedHealthcare Pennsylvania medical policy (Policy Number CS017PA.AA) that governs coverage for chromosome microarray analysis (CMA), including array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) array, for non-oncology conditions. It defines medically necessary prenatal and postnatal indications, testing limitations, counseling recommendations, and lists applicable procedure and diagnosis codes for Pennsylvania-specific application.

Policy metadata and thresholds

policy_numberCS017PA.AA

effective_dateFebruary 1, 2026

state-specific_scopeUnitedHealthcare Pennsylvania

coverage_stancemixed

threshold - Nuchal translucency≥ 3.5 mm (CMA shows substantial diagnostic yield; incremental yields noted at ≥3.0 mm and ≥2.5 mm)

threshold - FGR considerationOffer CMA for isolated fetal growth restriction diagnosed < 32 weeks gestation (SMFM recommendation)

threshold - POC genomic disorders incidenceOverall incidence in products of conception (POC): 1/150 (genomic disorders and syndromic pCNVs)

Medical-Necessity Criteria and Guideline-based Recommendations

Medically Necessary Indications

Chromosome microarray testing using aCGH and/or SNP array is proven and medically necessary when ANY of the following apply:

Evaluation of an embryo/fetus in the following cases: Intrauterine Fetal Demise or Stillbirth
Evaluation of an embryo/fetus: Testing the products of conception following pregnancy loss
Evaluation of an embryo/fetus: Individuals undergoing invasive prenatal testing (i.e., amniocentesis, chorionic villus sampling, or fetal tissue sampling)
Evaluation of individuals with Autism spectrum disorder (ASD)

Applicable Procedure and Diagnosis Codes

Covered / Reference Procedure CodesCPT|HCPCSCovered

0156U	Copy number (e.g., intellectual disability, dysmorphology), sequence analysis.
0209U	Cytogenomic constitutional (genome-wide) analysis, interrogation of genomic regions for copy number, structural changes and areas of homozygosity for chromosomal abnormalities.
81228	Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number variants, comparative genomic hybridization [CGH] microarray analysis.
81229	Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants, comparative genomic hybridization (CGH) microarray analysis.
81349	Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and loss-of-heterozygosity variants, low-pass sequencing analysis.
81479	Unlisted molecular pathology procedure
S3870	Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder and/or intellectual disability

Reference Diagnosis Codes (Applicable Conditions)ICD-10

F70	Mild intellectual disabilities.
F71	Moderate intellectual disabilities.
F72	Severe intellectual disabilities.
F73	Profound intellectual disabilities.
F78.A1	SYNGAP1-related intellectual disability.
F78.A9	Other genetic related intellectual disability.
F79	Unspecified intellectual disabilities.
F80.0	Phonological disorder.
F80.1	Expressive language disorder.
F80.2	Mixed receptive-expressive language disorder.

1–10 of 362

1/37

ICD-10 codes mentioned in this partICD-10

R62.50	Delayed milestone in childhood.
R62.51	Unspecified lack of expected normal physiological development in childhood.
R62.59	Other lack of expected normal physiological development in childhood.
R89.8	Other abnormal findings in specimens from other organs, systems and tissues.
Z14.1	Cystic fibrosis carrier.
Z14.8	Genetic carrier of other disease.
Z36.0	Encounter for antenatal screening for chromosomal anomalies.
Z37.1	Single stillbirth.
Z37.3	Twins, one liveborn and one stillborn.
Z37.4	Twins, both stillborn.

1–10 of 18

1/2

Updated ICD-10 diagnosis codes (Policy History)ICD-10

Q89.89
Q99.89
QA0.0159
QA0.8
Q89.8	Removed from applicable list
Q99.8	Removed from applicable list

Provider Actions and Operational Requirements

Documentation Required

Pre-test genetic counseling recommended

Pre-test genetic counseling is strongly recommended to inform individuals about advantages and limitations prior to CMA testing.

Documentation Required

Genetic counseling and informed consent

Obtain comprehensive pretest and posttest genetic counseling by qualified personnel; document informed consent discussions including potential VUS, incidental findings, non-paternity, consanguinity, and parental reporting preferences. Face-to-face genetic counseling must be provided and documented; informed consent must be obtained from patient/parent/guardian and assent from competent adolescents prior to CMA testing.

Prior Authorization

Pennsylvania-only policy application and exceptions

Background and Evidence Summary

Chromosome microarray analysis (CMA), which includes aCGH and SNP array platforms, detects copy number variations (CNVs) — deletions and duplications across the genome — and is used prenatally (from invasive samples such as amniocentesis or CVS and for products of conception or stillbirth evaluation) and postnatally for individuals with congenital anomalies, dysmorphic features, developmental delay, intellectual disability, autism spectrum disorder, or other specified indications. CMA provides higher resolution detection of pathogenic CNVs than conventional karyotype but can yield variants of uncertain significance and does not detect certain balanced rearrangements or some forms of uniparental disomy; hence pretest genetic counseling and informed consent are strongly recommended.

Study / Source	Key finding / yield
Lu et al. (2024)
CMA diagnostic yield in fetal congenital heart defects 15.3% (98/642) vs karyotype 8.3% (53/642); higher yield with extracardiac anomalies
Peng et al. (2023) meta-analysis
POC cytogenomic tests (n=35,130): chromosomal abnormalities 49.9%; pathogenic CNVs (pCNVs) 2.5%; genomic disorders/syndromic pCNVs 0.8% (overall incidence in POC ~1/150)
Jang et al. (2019)
In 617 individuals with DD/ID, ASD, MCA: 19.8% abnormal CMA; CMA findings influenced clinical management in 71.4% of tested individuals
Sheidley et al. (2022) systematic review (epilepsy)
CMA diagnostic yield ~9% for epilepsy (overall genetic testing yield across modalities 17%)
Li et al. (2025) FGR cohort
In FGR with structural malformations pCNV detection 19% vs 1.5% (soft markers) and 2.1% (isolated FGR) in single-center cohort (n=182)
Hussein et al. (2018) / Landis et al. (2023)
Pediatric CHD cohorts: clinically relevant CNVs identified in ~20–28% in studies assessing CHD with associated findings; genomic disorders and CNVs common in CHD populations
McCormack et al. (2016)
In 5,369 pre- and postnatal subjects, 28% had deletions/duplications; microarray increased detection vs routine chromosome analysis; VUS ~15.7%
Mastromoro et al. (2022 meta-analyses)
Incremental CMA yields for increased nuchal translucency and fetal structural anomalies: overall mixed-anomaly CMA yield ~5.7%; higher incremental yields with NT ≥3.5 mm and multiple structural anomalies
Fan et al. (2018)
In 710 individuals with DD/ID: 28% had CNVs; yields higher with coexisting CHD (55%), facial dysmorphism (39%), microcephaly (34%), hypotonia (35%)

Revision History

2026-02-01policy_historyLatest

Policy History entry dated 02/01/2026 notes these code changes and archives previous policy version CS017PA.Z. (has_material_change true)

Policy Summary

PayerUnitedHealthcare

PolicyChromosome Microarray Testing (Non-Oncology Conditions) (Pennsylvania)

Policy CodePolicy CS017PA.AA

Change TypeRevised ICD-10 code list (policy history)

Effective DateFeb 1, 2026

Next Review DateN/A

Key ActionObtain comprehensive pretest and posttest genetic counseling and document informed consent, including discussion of VUS, incidental findings, non-paternity, and reporting preferences.

SourceLink

On This Page

Evaluation of individuals with isolated severe congenital heart disease

Evaluation of individuals with multiple anomalies that are not specific to a Well-Delineated Genetic Syndrome and cannot be identified by a clinical evaluation alone

Evaluation of individuals with Developmental Delay/Intellectual Disability where a specific syndrome is not suspected

Evaluation of biological parent or sibling of a fetus or child with an abnormal or equivocal finding on chromosome microarray testing results

Not Medically Necessary / Unproven

CMA is unproven and not medically necessary for:

All other populations and conditions not listed in the medically necessary indications

Clinical indications described in evidence and guideline recommendations

CMA is recommended/considered in the following clinical scenarios per cited guidelines and studies:

Fetus with one or more major structural abnormalities identified on ultrasound undergoing invasive prenatal diagnosis (recommend CMA as primary test replacing conventional karyotype).
Fetus with structural anomalies plus additional extracardiac anomalies or multiple system malformations (higher diagnostic yield with CMA).
Fetus with congenital heart defects (CHD), especially non-isolated CHD and septal defects — consider CMA if karyotype/FISH is normal; CMA can be first-tier in CHD.
Fetus with fetal growth restriction (FGR)/intrauterine growth restriction (IUGR) when malformations or soft markers are present; offer CMA for FGR with malformations or isolated FGR <32 weeks (per SMFM).
Stillbirth or intrauterine fetal death — microarray analysis preferred over karyotype due to improved detection and better success with nonviable tissue.
Products of conception (POC) / early pregnancy loss — CMA has higher informative yield than karyotyping and can detect pCNVs; evidence supports use though some guidelines caution limited data for first trimester losses.
Increased nuchal translucency (NT) — CMA shows incremental yield, especially when NT ≥ 3.5 mm; consider CMA with higher NT thresholds.≥ 3.5 mm
Prenatal confirmatory testing following abnormal noninvasive prenatal screening (NIPS) or when NIPS reports small copy number changes — CMA on CVS or amniocentesis may be used.
Neonates or children with neurodevelopmental disorders: developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), multiple congenital anomalies (MCA) — CMA is a first-tier test for DD/ID/congenital anomalies per ACMG; evidence shows variable yields and impact on management.
Epilepsy and other pediatric indications — CMA has a lower diagnostic yield compared with sequencing/panels; utility varies by phenotype (yield ~9% for CMA in epilepsy).

Testing limitations, counseling, and pre/post-test requirements

Operational and counseling considerations referenced in guidelines:

Genetic counseling is strongly recommended prior to CMA to discuss advantages, limitations, consent (including potential findings of uncertain significance, non-paternity, consanguinity, adult-onset disease).
CMA may not detect balanced rearrangements or uniparental disomy (UPD); additional testing may be required to clarify mechanism and counseling.
For prenatal CMA, informed consent should include discussion of VUS reporting preferences and parental decisions for reporting incidental/secondary findings.
In prenatal setting, reporting thresholds for VUS: some guidelines advise not reporting VUS smaller than 500 Kb deletion or 1 Mb duplication; larger VUS reported only if evidence suggests pathogenicity.500 Kb deletion / 1 Mb duplication

AAN inclusion criteria for CMA (model coverage policy)

Microarray testing is recommended when ALL of the following are met:

Patient is a child with developmental delay/intellectual disability (DD/ID) or autism spectrum disorder (ASD) according to accepted DSM criteria
If warranted by the clinical situation, biochemical testing for metabolic diseases has been performed and is negative
Targeted genetic testing (e.g., FMR1 for Fragile X), if indicated by clinical and family history, is negative
Results of testing have the potential to impact clinical management
Face-to-face genetic counseling provided and informed consent obtained (and assent from cognitively competent adolescents)

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AAN circumstances limiting value of CMA (considered investigational or not medically necessary)

Microarray testing is NOT indicated when ANY of the following apply:

Absence of appropriate and informed consent from patient/parent/guardian
Inadequacy of knowledge about the test and actions required to address results
Lack of clear value for CMA outside the delineated indications — under these circumstances the test is considered investigational
Diagnosis of a disorder or syndrome is readily apparent based on clinical evaluation alone

ACMG recommended indications for CMA (postnatal)

CMA is recommended as a first-line test for individuals with ANY of the following:

Multiple anomalies not specific to a well-delineated genetic syndrome
Apparently non-syndromic developmental delay / intellectual disability (DD/ID)
Autism spectrum disorder (ASD)

This medical policy applies only to the state of Pennsylvania. Any requests that do not meet PARP criteria will be evaluated case-by-case referencing Pennsylvania Exceptions (Pennsylvania Code, Title 55, Chapter 1101). Note: PARP criteria and PA exceptions apply.

Prior Authorization

Use of CMA for specified prenatal and pediatric indications

Order CMA for specified prenatal and pediatric indications (fetal structural anomalies, stillbirth/POC analysis, CHD with additional anomalies, FGR per guideline thresholds, DD/ID/ASD evaluation). For prenatal testing that requires fetal DNA, use invasive diagnostic sampling (amniocentesis, CVS, or fetal tissue sampling) when CMA on fetal DNA is needed.

Billing Rule

Test selection guidance

Select the appropriate CMA platform (aCGH or SNP-array). Be aware CMA does not detect balanced rearrangements and may not detect some UPD — additional reflex testing (cytogenetics/FISH, UPD testing, or other assays) may be required to clarify mechanism.

Documentation Required

Prior targeted testing when indicated

Document prior targeted genetic testing and metabolic testing when clinically indicated and ensure results are negative before proceeding with CMA. Examples: targeted FMR1 testing for Fragile X and biochemical/metabolic testing as indicated.

Denial Risk

Inadequate clinical indication

CMA may be considered investigational or denied if ordered without appropriate informed consent, without adequate knowledge about the test implications, or when a diagnosis is clinically apparent from evaluation alone.