ModifiedCommunity Health Plan WashingtonPolicy N/A

CONCERT Genetic Testing: Dermatologic Conditions

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Criteria for when genetic and multigene panel testing for dermatologic conditions (e.g., CM-AVM, congenital ichthyosis, and other rare skin disorders) is considered medically necessary or investigational for members of Community Health Plan Washington.

Policy Summary

PayerCommunity Health Plan Washington

PolicyCONCERT Genetic Testing: Dermatologic Conditions

Policy CodePolicy N/A

Change TypeRemoved CPT 81252added Epidermolysis Bullosacriteria retitling/refs updated

Effective DateN/A

Last ReviewNov 20, 2024

Next Review DateN/A

Key ActionObtain prior authorization for multigene panel tests (commonly coded 81405, 81479) via the payer process and include clinical documentation of qualifying findings.

SourceLink

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ModifiedCommunity Health Plan WashingtonPolicy N/A

CONCERT Genetic Testing: Dermatologic Conditions

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Sign up for all Community Health Plan Washington policy alerts

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Policy Summary

PayerCommunity Health Plan Washington

PolicyCONCERT Genetic Testing: Dermatologic Conditions

Policy CodePolicy N/A

Change TypeRemoved CPT 81252added Epidermolysis Bullosacriteria retitling/refs updated

Effective DateN/A

Last ReviewNov 20, 2024

Next Review DateN/A

Key ActionObtain prior authorization for multigene panel tests (commonly coded 81405, 81479) via the payer process and include clinical documentation of qualifying findings.

SourceLink

POLICY UPDATE CHANGES

Removed CPT code 81252 from Congenital Ichthyosis Multigene Panels throughout the policy.

Added one disorder (Epidermolysis Bullosa) to the 'Other Covered Dermatologic Conditions' list.

Added/renamed criteria set for 'Arteriovenous Malformation Syndrome (CM-AVM)' to 'RASA1 and EPHB4 Sequencing and/or Deletion/Duplication Analysis or Multigene Panel' and updated dates in References.

Updated title in Background and Rationale for RASA1 and EPHB4 testing to align with criteria set name and updated reference dates.

In Known Familial Variant Analysis for Dermatologic Conditions, criteria were moved to the 'Genetic Testing: General Approach to Genetic and Molecular Testing' policy.

3GeneReviews refs

1Disorders added

12ARCI genes listed

81405,81479Common panel codes

11/2024Last revision date

Coverage Criteria for Genetic Testing — Dermatologic Conditions

RASA1 and EPHB4 Sequencing or Multigene Panel (CM-AVM)

RASA1 and EPHB4 sequencing and/or deletion/duplication analysis or multigene panel (81479) is considered medically necessary when:

CM-AVM diagnostic criteria: Member displays one or more of the following: capillary malformations OR arteriovenous malformations/arteriovenous fistulas OR Parkes Weber syndrome phenotype (cutaneous capillary malformation associated with underlying multiple micro-AVFs and soft-tissue and skeletal hypertrophy of the affected limb).1 of list

If criteria met, RASA1 and EPHB4 sequencing and/or deletion/duplication analysis or multigene panel (81479) is medically necessary for diagnosis of CM-AVM.

Congenital Ichthyosis Multigene Panels

Multigene panel analysis to establish or confirm a diagnosis of congenital ichthyosis (81405, 81479) is considered medically necessary when ALL of the following are met:

Congenital ichthyosis criteria: A. Member has scaly skin with or without history of harlequin ichthyosis, collodion membrane, or thick hyperkeratotic skin, AND B. One or more of: ectropion (eversion of eyelids) OR eclabium (eversion of lips) OR scarring alopecia OR palmar and/or plantar hyperkeratosis OR erythroderma (red skin).A AND (one or more of B-list)

If met, multigene panel testing (81405, 81479) is medically necessary to establish or confirm congenital ichthyosis.

Other Covered Dermatologic Conditions

Genetic testing to establish or confirm the following rare dermatologic diagnoses is considered medically necessary when clinical features consistent with the condition are present:

Other covered dermatologic conditions: Includes Hidrotic Ectodermal Dysplasia 2 (Clouston syndrome) OR Hypohidrotic Ectodermal Dysplasia OR Ocular albinism (X-linked) OR Oculocutaneous albinism OR Epidermolysis Bullosa.clinical features consistent with the disorder

List is not comprehensive; other dermatologic genetic disorders will be evaluated per the General Approach to Genetic and Molecular Testing policy.

Use of the specified genetic tests described in this policy for indications that do not meet the listed qualifying clinical features is considered investigational. Examples include ordering multigene panels for congenital ichthyosis or RASA1/EPHB4 testing when the member does not meet the condition-specific criteria in the policy (e.g., absence of required dermatologic signs such as scaly skin with one or more ichthyosis-specific features, or absence of capillary malformations/AVMs/Parkes Weber phenotype for CM-AVM).

When testing is investigational for an indication outside the stated criteria, it is not covered under this policy and may be denied unless other plan-level coverage provisions apply.

When a state Medicaid program’s coverage provisions conflict with the clinical policy language herein, the state Medicaid coverage provisions take precedence. Coverage decisions remain subject to all terms, conditions, exclusions, and limitations of the member’s coverage documents and applicable state and federal requirements.

Multigene panel analysis for congenital ichthyosis (commonly coded as 81405 or 81479) is designated investigational and not covered when the member does not meet the policy’s specified clinical criteria (i.e., the member does not have scaly skin plus one or more listed ichthyosis-specific features such as ectropion, eclabium, scarring alopecia, palmar/plantar hyperkeratosis, or erythroderma).

Covered Indications / Diagnostic Scenarios

Diagnosis of capillary malformation-arteriovenous malformation (CM-AVM)

Diagnosis of capillary malformation-arteriovenous malformation (CM-AVM) is covered when the member has one or more of the following:

CM-AVM covered indications: Capillary malformations OR arteriovenous malformations/arteriovenous fistulas OR Parkes Weber phenotype (cutaneous capillary malformation with multiple micro-AVFs and soft-tissue/skeletal hypertrophy).one or more

When present, RASA1 and EPHB4 sequencing and/or deletion/duplication analysis or multigene panel (81479) is considered medically necessary for CM-AVM diagnosis.

Establish or confirm congenital ichthyosis

Establishing or confirming congenital ichthyosis via multigene panel is covered when scaly skin plus one or more specified features are present:

Ichthyosis covered indications: Member has scaly skin (with or without history of harlequin ichthyosis, collodion membrane, or thick hyperkeratotic skin) AND one or more of: ectropion OR eclabium OR scarring alopecia OR palmar/plantar hyperkeratosis OR erythroderma.

Coding — CPT and ICD Examples

Example/Referenced CPT Codes for CM-AVMCPT

81479

Unlisted molecular pathology procedure (used here for RASA1/EPHB4 sequencing or multigene panel (CM-AVM))

Covered CPT Codes for Congenital Ichthyosis PanelsCPTCovered

81405	Targeted multigene sequence analysis (used here for congenital ichthyosis panels)
81479	Unlisted molecular pathology procedure (also referenced for ichthyosis panels)

Other Covered Panel CPT ExamplesCPT

81401	Listed in 'Other Covered Dermatologic Conditions' coding examples
81402	Listed in 'Other Covered Dermatologic Conditions' coding examples
81403	Listed in 'Other Covered Dermatologic Conditions' coding examples
81404	Listed in 'Other Covered Dermatologic Conditions' coding examples
81406	Listed in 'Other Covered Dermatologic Conditions' coding examples
81407	Listed in 'Other Covered Dermatologic Conditions' coding examples
81408	Listed in 'Other Covered Dermatologic Conditions' coding examples

Example ICD Codes referencedICD-10

Q27.3	Arteriovenous malformation of cerebral vessels / Vascular malformation coding example referenced
Q27.9	Vascular malformation, unspecified
Q80	Ichthyosis (congenital ichthyosis coding example)

Clinical feature requirement — congenital ichthyosis panels

Required primary findingScaly skin (with or without history of harlequin ichthyosis, collodion membrane, or thick hyperkeratotic skin)

Additional ichthyosis-specific features (one or more required)Ectropion (eversion of eyelids); Eclabium (eversion of lips); Scarring alopecia; Palmar and/or plantar hyperkeratosis; Erythroderma (red skin)

Coverage implicationWhen scaly skin PLUS one or more listed features are present, multigene panel testing (81405, 81479) is considered medically necessary.

Provider Actions and Prior Authorization

Prior Authorization

Prior Authorization Required

Prior authorization is required for multigene panel testing (e.g., CPT 81405, 81479) per the Health Plan’s prior authorization process. Providers must verify prior authorization requirements and obtain approval before ordering testing when plan systems indicate PA is required.

Affected codes: 81405, 81479

Denial Risk

Investigational Indications Risk

Multigene panel testing for congenital ichthyosis (81405, 81479) or for RASA1/EPHB4 (81479) is considered investigational for indications outside the specific criteria listed in this policy. Ordering tests outside the specified indications may result in denial of coverage.

Congenital ichthyosis panels: 81405, 81479
RASA1/EPHB4 sequencing or panel: 81479

Eligibility Requirements

Eligibility for testing under this policy is limited to members who meet the condition-specific clinical criteria described in the policy sections for each test (for example, CM-AVM criteria for RASA1/EPHB4 testing and the congenital ichthyosis criteria for ichthyosis multigene panels).

Coverage is subject to member-specific benefit terms, plan-level administrative policies, and any prior authorization requirements; providers should confirm member eligibility and benefit coverage through the Health Plan systems before ordering tests.

Providers must ensure that clinical documentation supporting the member’s qualifying findings is available and submitted as required by the Health Plan (for example, documentation of capillary malformations, AVMs/AVFs, Parkes Weber phenotype, or ichthyosis-specific features).

Known familial variant testing and family-history–linked pathways are managed per the Health Plan’s 'General Approach to Genetic and Molecular Testing' policy; follow that policy for any family-specific eligibility considerations.

Not Covered / Investigational

Any genetic testing for the dermatologic conditions addressed in this policy that does not meet the stated clinical criteria is considered investigational and not covered. This includes multigene panel testing for congenital ichthyosis and RASA1/EPHB4 sequencing or panels when the member lacks the required qualifying clinical features.

Providers should confirm that the member meets the applicable criteria and that prior authorization (when required) has been obtained; absence of criteria-fulfilling documentation may result in denial of coverage.

Background and Rationale

Genetic testing can confirm diagnoses for dermatologic conditions when characteristic clinical signs are present and may influence management, surveillance, and family counseling. The policy references diagnostic approaches and expert resources (for example, GeneReviews) to guide testing choices and interpretation.

For congenital ichthyosis, a multigene panel that includes the ARCI-associated genes (for example, ABCA12, TGM1, SLC27A4 and others) is the diagnostic test of choice; if multigene testing is not available, tiered single-gene testing may be considered starting with genes tied to the clinical presentation. For CM-AVM, targeted sequencing and/or deletion/duplication analysis of RASA1 and EPHB4 (or a panel that includes these genes) is used to establish the diagnosis when clinical criteria are met.

Definitions and Resources

Capillary malformations (CMs)

DefinitionCapillary malformations (CMs) are the hallmark of CM-AVM syndrome: multifocal, atypical pink-to-reddish-brown, small (approximately 1–2 cm), round-to-oval lesions sometimes with a white halo—composed of dilated capillaries in the papillary dermis and mostly localized on the face and limbs.

Associated findingsCMs may occur with arteriovenous malformations (AVMs) or arteriovenous fistulas (AVFs), and can be seen with soft-tissue, bone, or brain AVMs potentially associated with overgrowth.

Clinical suspicion triggerSuspect CM-AVM when capillary malformations are present, especially if multifocal or accompanied by AVMs/AVFs or Parkes Weber phenotype (capillary malformation with multiple micro-AVFs and limb overgrowth).

ARCI (Autosomal recessive congenital ichthyosis)

DefinitionAutosomal recessive congenital ichthyosis (ARCI) is a spectrum of nonsyndromic ichthyoses ranging from harlequin ichthyosis to lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma; phenotypes lie along a continuum.

Policy Summary

PayerCommunity Health Plan Washington

PolicyCONCERT Genetic Testing: Dermatologic Conditions

Policy CodePolicy N/A

Change TypeRemoved CPT 81252added Epidermolysis Bullosacriteria retitling/refs updated

Effective DateN/A

Last ReviewNov 20, 2024

Next Review DateN/A

Key ActionObtain prior authorization for multigene panel tests (commonly coded 81405, 81479) via the payer process and include clinical documentation of qualifying findings.

SourceLink

On This Page

A AND (one or more of B-list)

If criteria met, congenital ichthyosis multigene panel testing (81405, 81479) is medically necessary.

Diagnosis of listed rare dermatologic genetic disorders

Diagnosis of the following listed rare dermatologic genetic disorders is covered when clinical features are consistent with the condition:

Listed dermatologic disorders: Clouston syndrome (Hidrotic Ectodermal Dysplasia 2) OR Hypohidrotic Ectodermal Dysplasia OR Ocular albinism, X-linked OR Oculocutaneous albinism OR Epidermolysis Bullosa.clinical features consistent with the disorder

These disorders are examples; testing for other disorders may be evaluated under the General Approach policy.

Congenital ichthyosis via multigene panel

Reference updates and operational notes for congenital ichthyosis multigene panels:

Panel reference updates: GeneReviews reference dates and other citations for the Congenital Ichthyosis Multigene Panel have been updated in References.reference update

This is an operational update; clinical criteria unchanged.

Arteriovenous Malformation Syndrome (CM-AVM) testing via RASA1 and EPHB4

Arteriovenous Malformation Syndrome (CM-AVM) testing via RASA1 and EPHB4 sequencing and/or deletion/duplication analysis or multigene panel:

CM-AVM test naming: Criteria set name updated to 'RASA1 and EPHB4 Sequencing and/or Deletion/Duplication Analysis or Multigene Panel' to align with test naming and references.n/a

Testing modality includes sequencing and deletion/duplication analysis or multigene panel (commonly coded 81479).

Other covered dermatologic conditions including Epidermolysis Bullosa

Other covered dermatologic conditions (updated):

Other dermatologic covered indications: Includes conditions listed above; Epidermolysis Bullosa was added to the covered list.clinical features consistent with disorder

List is not comprehensive; other disorders evaluated per General Approach policy.

Note

Coverage Subject to Plan and Legal Terms

Coverage decisions are subject to the member’s benefit plan documents, applicable state and federal law, and the Health Plan’s administrative policies. This clinical policy is a guide to medical necessity and does not guarantee payment.

Documentation Required

Clinical Documentation Required

Providers must supply clinical documentation that supports the medical necessity of testing. Relevant documentation includes signs and/or symptoms referenced in the criteria (for example: capillary malformations, arteriovenous malformations/arteriovenous fistulas, Parkes Weber phenotype, scaly skin with supporting features for ichthyosis such as ectropion, eclabium, scarring alopecia, palmar/plantar hyperkeratosis, or erythroderma).

Documentation Required

Documentation and Plan Adherence

Providers must follow the Health Plan’s administrative policies and procedures, document adherence to the policy criteria in the medical record, and follow any plan-specific ordering or submission processes (including PA submission requirements and coding guidance). Failure to follow plan procedures or to document criteria may result in denial or request for additional information.

Clinical diagnostic criteriaDiagnosis is established in a proband with scaly skin (often a collodion baby) and later development of features such as classic lamellar ichthyosis (brown plate-like scale with ectropion, eclabium, scarring alopecia, palmoplantar hyperkeratosis) or congenital ichthyosiform erythroderma (erythroderma with fine white scale).

Genetic confirmationDiagnosis can also be established by identification of biallelic pathogenic variants in ARCI-associated genes.

GeneReviews (policy reference)

Resource typeGeneReviews is an expert-authored, peer-reviewed online resource summarizing current literature on genetic diseases.

Role in policyGeneReviews is cited as the primary clinical reference for diagnostic approaches for CM-AVM and ARCI and informs recommended testing strategies (including multigene panels).

Access informationAvailable online via the National Center for Biotechnology Information Bookshelf; GeneReviews entries are regularly updated and referenced in policy references.

OMIM (policy reference)

Resource typeOMIM (Online Mendelian Inheritance in Man) is an online catalog of human genes and genetic phenotypes maintained by Johns Hopkins University.

Role in policyOMIM is referenced as an authoritative genetic information resource in the policy references section.

Access informationAvailable online at https://omim.org/ as cited in the policy references.