CurrentCentenePolicy N/A

Concert Genetic Testing: Dermatologic Conditions

Criteria for when specific genetic tests or multigene panels for dermatologic conditions (notably RASA1/EPHB4 for CM-AVM and multigene panels for congenital ichthyosis) are considered medically necessary versus investigational, plus a list of other covered dermatologic conditions with known genetic associations. Includes coding examples and references.

Policy Summary

PayerCentene

PolicyConcert Genetic Testing: Dermatologic Conditions

Policy CodePolicy N/A

Change TypeTitle/References updates; added disorder; coding/administrative updates

Effective Date

Next Review Date

Key ActionDocument the specific clinical findings that meet the policy criteria when submitting genetic testing claims and follow plan preauthorization processes via the Concert Platform.

SourceLink

POLICY UPDATE CHANGES

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

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

Removed CPT 81252 from Congenital Ichthyosis Multigene Panels throughout the policy in prior revisions.

Moved Known Familial Variant Analysis criteria to 'Genetic Testing: General Approach to Genetic and Molecular Testing' policy.

2Primary detailed conditions (CM-AVM; Congenital Ichthyosis)

5Examples of other covered dermatologic disorders listed

2024-11

Coverage Summary

This policy addresses genetic testing for dermatologic conditions. Genetic testing for specific dermatologic disorders — notably RASA1/EPHB4 sequencing and/or deletion/duplication analysis or multigene panel for CM-AVM and multigene panels for congenital ichthyosis — is considered medically necessary when the related criteria are met and investigational for all other indications. The policy therefore has a mixed coverage stance: some targeted tests and panels are covered when clinical criteria are satisfied while other indications remain investigational. The brief highlights 2 primary detailed conditions (CM-AVM; Congenital Ichthyosis) and was last revised in 2024-11.

Key policy badges

Primary detailed conditions2

Other covered disorders listed5

Last revision date2024-11

Medical Necessity Criteria

RASA1 and EPHB4 Sequencing and/or Deletion/Duplication Analysis or Multigene Panel (81479)

Considered medically necessary when meeting the related criteria; investigational for all other indications.

ALL of the following

Test: RASA1 and EPHB4 sequencing and/or deletion/duplication analysis or multi-gene panel analysis (CPT 81479)
Member/enrollee displays one or more of the following
- Capillary malformations
- Arteriovenous malformations/arteriovenous fistulas
- Parkes Weber syndrome phenotype (cutaneous capillary malformation associated with underlying multiple micro-AVFs and soft-tissue and skeletal hypertrophy of the affected limb)

RASA1/EPHB4 - Not Medically Necessary

Investigational for all other indications

Any indication not specified in the medically necessary criteria above

Congenital Ichthyosis Multigene Panels (81405, 81479)

Multigene panel analysis to establish or confirm a diagnosis is medically necessary when ALL of the following are met; investigational for all other indications.

ALL of the following

Test: Multigene panel analysis (CPT 81405, 81479) for congenital ichthyosis
Clinical presentation: Member/enrollee has scaly skin with or without a history of harlequin ichthyosis, collodion membrane, or thick, hyperkeratotic skin
AND one or more of the following
- Ectropion (eversion of eyelids)
- Eclabium (eversion of lips)

Congenital Ichthyosis - Not Medically Necessary

Investigational for all other indications

Any indication not specified in the medically necessary criteria above

Other Covered Dermatologic Conditions (selected list)

Genetic testing to establish or confirm diagnosis is medically necessary when member demonstrates clinical features consistent with the condition.

ANY of the following

Hidrotic Ectodermal Dysplasia 2 (Clouston Syndrome)
Hypohidrotic Ectodermal Dysplasia
Ocular albinism, X-linked
Oculocutaneous albinism
Epidermolysis Bullosa

Coding

Example CPT codes referencedCPT

81479	Unlisted molecular pathology procedure (used here as example for multigene panels or sequencing analyses like RASA1/EPHB4)
81405	Targeted genomic sequence analysis (used here as example for congenital ichthyosis multigene panels)
81401	CPT listed in document as other covered dermatologic conditions (exact description not specified in text)
81402	CPT listed in document as other covered dermatologic conditions (exact description not specified in text)
81403	CPT listed in document as other covered dermatologic conditions (exact description not specified in text)
81404	CPT listed in document as other covered dermatologic conditions (exact description not specified in text)
81406	CPT listed in document as other covered dermatologic conditions (exact description not specified in text)
81407	CPT listed in document as other covered dermatologic conditions (exact description not specified in text)
81408	CPT listed in document as other covered dermatologic conditions (exact description not specified in text)

Example ICD-10 codes referencedICD-10

Q27.3	Arteriovenous malformation, unspecified (listed in CM-AVM examples)
Q27.9	Congenital malformation of peripheral vascular system, unspecified (listed in CM-AVM examples)
Q80	Ichthyosis (used as example for congenital ichthyosis panels)

CPT and ICD examples included in the policy are provided for informational purposes only; inclusion or exclusion of codes does not guarantee coverage. Providers should reference current professional coding guidance and the most up-to-date coding resources when submitting claims.

Provider Actions & Requirements

Documentation Required

Clinical features required for medical necessity

Document the specific clinical findings that meet the policy criteria (e.g., capillary malformations, AVMs/AVFs, Parkes Weber phenotype for CM-AVM; scaly skin plus one of specified features for congenital ichthyosis) when submitting genetic testing claims.

Associated CPT examples: 81479, 81405
Examples of findings to document for CM-AVM: capillary malformations; arteriovenous malformations or arteriovenous fistulas; Parkes Weber phenotype (cutaneous capillary malformation with underlying micro-AVFs and limb overgrowth)
Examples of findings to document for congenital ichthyosis: scaly skin (with or without history of harlequin ichthyosis or collodion membrane or thick hyperkeratotic skin) plus one or more of: ectropion, eclabium, scarring alopecia, palmar/plantar hyperkeratosis, erythroderma

Prior Authorization

Background & Evidence

Rationale and references: GeneReviews, OMIM, and MedlinePlus are cited as primary references supporting the testing approaches. For CM-AVM, GeneReviews recommends testing (EPHB4 and RASA1) when clinical features such as capillary malformations, AVMs/AVFs, or a Parkes Weber phenotype are present, and notes that multigene panels including EPHB4 and RASA1 are likely to identify the genetic cause while limiting variants of uncertain significance. For autosomal recessive congenital ichthyosis (ARCI), GeneReviews describes the spectrum of ARCI phenotypes and supports multigene panels including known ARCI-associated genes (e.g., ABCA12, TGM1, SLC27A4 and others) as the diagnostic test of choice; single-gene testing is described as an alternative when panel testing is unavailable. References include GeneReviews entries for CM-AVM and ARCI, OMIM, and MedlinePlus.

Reference	Key guidance
GeneReviews guidance for CM-AVM	Diagnosis is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in EPHB4 or RASA1; multigene panels including EPHB4 and RASA1 are recommended to identify the genetic cause while limiting VUS
GeneReviews guidance for ARCI	Diagnosis established by scaly skin phenotype with characteristic features (eg, harlequin ichthyosis, collodion membrane, thick hyperkeratotic skin with later specific features) and/or identification of biallelic pathogenic variants in ARCI-associated genes; multigene panels including known ARCI genes are the diagnostic test of choice

Definitions:

• CM-AVM: Capillary malformation-arteriovenous malformation syndrome.

• Parkes Weber syndrome phenotype: A cutaneous capillary malformation associated with underlying multiple micro-AVFs and soft-tissue and skeletal hypertrophy of the affected limb.

Revision History

03/23non-material (coding change)

Removed CPT 81252 from Congenital Ichthyosis Multigene Panels throughout the policy (not a clinical criteria change).

10/23non-material (coding change)

Removed CPT 81252 from Congenital Ichthyosis Multigene Panels throughout the policy (not a clinical criteria change).

04/24administrative (consolidation/clarification)

Moved Known Familial Variant Analysis criteria to 'Genetic Testing: General Approach to Genetic and Molecular Testing' policy (administrative consolidation/clarification).