Concert Genetics Genetic Testing: Dermatologic Conditions Form

CENTENE Corporation

Concert Genetics Genetic Testing: Dermatologic Conditions  
V2.2024  
Date of Last Revision: 04/24  

Revision log  
Coding Implications  

# CONCERT GENETICS GENETIC TESTING: DERMATOLOGIC CONDITIONS

See [Important Reminder](#important-reminder) at the end of this policy for important regulatory and legal information.

## OVERVIEW

Genetic testing for dermatologic conditions and disorders that have many dermatologic findings may be used to confirm a diagnosis in a patient who has signs and/or symptoms of the disease. Confirming the diagnosis may alter some aspects of management and may eliminate the need for further diagnostic workup. This document addresses genetic testing for dermatologic conditions.

## POLICY REFERENCE TABLE

### Coding Implications

This clinical policy references Current Procedural Terminology (CPT®). CPT is a registered trademark of the American Medical Association. All CPT codes and descriptions are copyrighted 2023, American Medical Association. All rights reserved. CPT codes and CPT descriptions are from the current manuals and those included herein are not intended to be all-inclusive and are included for informational purposes only. Codes referenced in this clinical policy are for informational purposes only. Inclusion or exclusion of any codes does not guarantee coverage. Providers should reference the most up-to-date sources of professional coding guidance prior to the submission of claims for reimbursement of covered services.

The tests and associated laboratories and CPT codes contained within this document serve only as examples to help users navigate claims and corresponding criteria; as such, they are not comprehensive and are not a guarantee of coverage or non-coverage. Please see the [Concert Genetics Platform](https://www.concertgenetics.com) for a comprehensive list of registered tests.

| Criteria Sections | Example Tests (Labs) | Common CPT Codes | Common ICD Codes | Ref |
|-------------------|---------------------|-----------------|-----------------|-----|
| **Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM)** | Capillary Malformation- Arteriovenous Malformation Syndrome (CM-AVM) Panel, Sequencing and Deletion/Duplication (ARUP Laboratories) <br> Vascular Malformation Sequencing Panel (Greenwood Genetic Center) <br> RASA1 Full Gene Sequencing and Deletion/Duplication (Invitae) <br> EPHB4 Full Gene Sequencing and Deletion/Duplication (Invitae) | 81479 | Q27.3, Q27.9 | 1 |
| **Congenital Ichthyosis** | Ichthyosis Panel (Blueprint Genetics) <br> Ichthyosis NGS Panel (Connective Tissue Gene Tests) <br> Invitae Congenital Ichthyosis Panel (Invitae) | 81405, 81479 | Q80 | 2 |
| **Covered Dermatologic Conditions** | See Below | 81401-81408, 81479 | Varies | 3, 4, 5 |

## OTHER RELATED POLICIES

This policy document provides criteria for Genetic Testing for Dermatologic Conditions. Please refer to:  
- *Genetic Testing: Hereditary Cancer Susceptibility* for criteria related to hereditary cancer syndromes that may have or present with dermatologic findings.  
- *Genetic Testing: Multisystem Inherited Disorders, Intellectual Disability, and Developmental Delay* for criteria related to tuberous sclerosis, neurofibromatosis, HHT, incontinentia pigmenti, proteus syndrome, pseudoxanthoma elasticum, and other disorders that affect the skin and other organ systems.  
- *Genetic Testing: General Approach to Genetic and Molecular Testing* for criteria related to genetic testing for a dermatologic condition that is not specifically discussed in this or another more specific policy.  

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## CRITERIA

It is the policy of health plans affiliated with Centene Corporation® that the specific genetic testing noted below is **medically necessary** when meeting the related criteria:

  

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*Clinical features for a specific disorder may be outlined in resources such as GeneReviews, OMIM, National Library of Medicine, Genetics Home Reference or other scholarly sources.  

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## BACKGROUND AND RATIONALE

### Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM)

GeneReviews: [Capillary Malformation-Arteriovenous Malformation Syndrome](https://www.ncbi.nlm.nih.gov/books/NBK52764/)  

GeneReviews is an expert-authored review of current literature on a genetic disease, and goes through a rigorous editing and peer review process before being published online. The recommended diagnostic testing for CM-AVM is as follows:  

"CM-AVM syndrome should be suspected in individuals who have any of the following:  
- Capillary malformations (CMs), the hallmark of CM-AVM syndrome. CMs are generally:  
  - Multifocal, atypical pink-to-reddish brown, multiple, small (1-2 cm in diameter), round-to-oval lesions sometimes with a white halo;  
  - Composed of dilated capillaries in the papillary dermis;  
  - Mostly localized on the face and limbs;  
  - Seen in combination with arteriovenous malformations (AVMs) or arteriovenous fistulas (AVF), but may be the only finding.  
- AVMs/AVFs in soft tissue, bone, and brain that may be associated with overgrowth  
- Parkes Weber syndrome phenotype, a cutaneous capillary malformation associated with underlying multiple micro-AVFs and soft-tissue and skeletal hypertrophy of the affected limb"  

"The diagnosis of CM-AVM syndrome is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in EPHB4 or RASA1 identified by molecular genetic testing."  

### Congenital Ichthyosis Multigene Panels

GeneReviews: [Autosomal Recessive Congenital Ichthyosis](https://www.ncbi.nlm.nih.gov/books/NBK1420/)  

GeneReviews is an expert-authored review of current literature on a genetic disease, and goes through a rigorous editing and peer review process before being published online. The recommended diagnostic testing for nonsyndromic congenital ichthyosis is as follows:  

"Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management."  
- The diagnosis of ARCI is established in a proband (typically an infant):  
  - With scaly skin with or without a history of harlequin ichthyosis, collodion membrane, or thick, hyperkeratotic skin AND the later development of ONE of the following:  
    - Classic lamellar ichthyosis (LI). Brown, plate-like scale over the entire body, associated with ectropion (eversion of eyelids), eclabium (eversion of lips), scarring alopecia, and palmar and plantar hyperkeratosis  
    - (Nonbullous) congenital ichthyosiform erythroderma (CIE). Erythroderma (red skin) with fine, white scale and often with palmoplantar hyperkeratosis  
    - Intermediate forms with some features of both LI and CIE, or nonLI/nonCIE form with mild hyperkeratosis;  

AND/OR  
- By identification of biallelic pathogenic variants in one of the genes listed below.  

"The twelve genes known to be associated with ARCI are ABCA12, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, SULT2B1, and TGMI. A multigene panel that includes these genes is the diagnostic test of choice. If such testing is not available, single-gene testing can be considered starting with ABCA12 in individuals with harlequin ichthyosis, TGMI in individuals with ARCI without harlequin presentation at birth and SLC27A4 in those presenting with ichthyosis-prematurity syndrome."  

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| Reviews, Revisions, and Approvals | Revision Date | Approval Date |
|----------------------------------|--------------|--------------|
| Policy developed.                | 03/23        | 03/23        |
| Semi-annual review. Updated title to reflect V1.2024 version. Overview, coding, reference-table, background and references updated. Throughout policy: replaced “coverage criteria” with “criteria”. For Other Related Policies: added “Molecular”. For Congenital Ichthyosis Multigene Panels: removed “81252” throughout. In Epidermolysis Bullosa Multigene Panels in I.A. replaced “AND” with “OR”; in I.B.1 replaced with “May be” with “Is”; in I.B.4. replaced “Can lead” with “Leads”; in I.B.5. replaced “AND” with “OR”; in I.C. added “4. Natal teeth, OR”. For Other Covered Dermatologic Conditions: added “and Molecular”. For Background and Rationale: replaced “inheritance patterns” with “genetic testing”. | 10/23        | 10/23        |
| Semi-annual review. Updated title to reflect V2.2024 version. In Known Familial Variant Analysis for Dermatologic Conditions criteria, moved criteria to policy “Genetic Testing: General Approach to Genetic and Molecular Testing” to consolidate criteria for known familial variant tests. In Epidermolysis Bullosa Multigene Panels criteria, retired criteria set based on rarity of testing (low order volume and low claim volume). In Congenital Ichthyosis Multigene Panels criteria, removed minimum gene list; at present there is limited rationale for inclusion. Minor rewording for clarity throughout. Coding, reference-table, background and references updated. | 04/24        | 04/24        |

  

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## Important Reminder

This clinical policy has been developed by appropriately experienced and licensed health care professionals based on a review and consideration of currently available generally accepted standards of medical practice; peer-reviewed medical literature; government agency/program approval status; evidence-based guidelines and positions of leading national health professional organizations; views of physicians practicing in relevant clinical areas affected by this clinical policy; and other available clinical information. The Health Plan makes no representations and accepts no liability with respect to the content of any external information used or relied upon in developing this clinical policy. The Health Plan is consistent with standards of medical practice current at the time that this clinical policy was approved. “Health Plan” means a health plan that has adopted this clinical policy and that is operated or administered, in whole or in part, by Centene Management Company, LLC, or any of such health plan’s affiliates, as applicable.  

The purpose of this clinical policy is to provide a guide to medical necessity, which is a component of the guidelines used to assist in making coverage decisions and administering benefits. It does not constitute a contract or guarantee regarding payment or results. Coverage decisions and the administration of benefits are subject to all terms, conditions, exclusions, and limitations of the coverage documents (e.g., evidence of coverage, certificate of coverage, policy, contract of insurance, etc.), as well as to state and federal requirements and applicable Health Plan-level administrative policies and procedures.  

This clinical policy is effective as of the date determined by the Health Plan. The date of posting may not be the effective date of this clinical policy. This clinical policy may be subject to applicable legal and regulatory requirements relating to provider notification. If there is a discrepancy between the effective date of this clinical policy and any applicable legal or regulatory requirement, the requirements of law and regulation shall govern. The Health Plan retains the right to change, amend or withdraw this clinical policy, and additional clinical policies may be developed and adopted as needed, at any time.  

This clinical policy does not constitute medical advice, medical treatment, or medical care. It is not intended to dictate to providers how to practice medicine. Providers are expected to exercise professional medical judgment in providing the most appropriate care and are solely responsible for the medical advice and treatment of member/enrollees. This clinical policy is not intended to recommend treatment for member/enrollees. Member/enrollees should consult with their treating physician in connection with diagnosis and treatment decisions.  

Providers referred to in this clinical policy are independent contractors who exercise independent judgment and over whom the Health Plan has no control or right of control. Providers are not agents or employees of the Health Plan.  

This clinical policy is the property of the Health Plan. Unauthorized copying, use, and distribution of this clinical policy or any information contained herein are strictly prohibited. Providers, member/enrollees, and their representatives are bound to the terms and conditions expressed herein through the terms of their contracts. Where no such contract exists, providers, member/enrollees and their representatives agree to be bound by such terms and conditions by providing services to member/enrollees and/or submitting claims for payment for such services.  

**Note:** For Medicaid member/enrollees, when state Medicaid coverage provisions conflict with the coverage provisions in this clinical policy, state Medicaid coverage provisions take precedence. Please refer to the state Medicaid manual for any coverage provisions pertaining to this clinical policy.  

**Note:** For Medicare member/enrollees, to ensure consistency with the Medicare National Coverage Determinations (NCD) and Local Coverage Determinations (LCD), all applicable NCDs and LCDs and Medicare Coverage Articles should be reviewed prior to applying the criteria set forth in this clinical policy. Refer to the CMS website at [http://www.cms.gov](http://www.cms.gov) for additional information.  

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