Humana Genetic Testing for Ehlers-Danlos Syndrome Form

Description

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting the connective tissues. Common characteristics of EDS include easy bruising, skin hyperelasticity or laxity, joint hypermobility and tissue weakness. EDS is categorized by type:

• Classic (EDS types I and II)
• Hypermobility (EDS type III)
• Vascular (vEDS) (EDS type IV)
• Kyphoscoliosis (EDS type VI)
• Arthrochalasia (EDS types VIIA & B)
• Dermatosparaxis (EDS type VIIC)
• Periodontal (EDS type VIII)

Classic, hypermobility and vascular type occur more frequently than the other types. Other rarer forms include spondylocheirodysplasia EDS and musculocontractural EDS; additional rare variants of EDS have also been described.

Genetic testing may be used to aid in the diagnosis of vEDS in an individual exhibiting signs and symptoms of the condition as well as for determining susceptibility in an unaffected individual with a family history of EDS. Genetic testing has been proposed for assisting in the diagnosis and prediction of risk in other types of EDS.

Multigene panels have been proposed to evaluate genes associated with diseases or syndromes. Panels often include medically actionable genes but may also include those with unclear medical management. Targeted multigene panels are also commercially available. These panels limit the number of genes and are targeted to a specific condition. In general, multigene panels are not appropriate; however, in rare instances, targeted panel analysis may be applicable.

For information regarding genetic testing for the following, please refer to Genetic Testing Medical Coverage Policy:

• DNA banking or preservation
• General population screening
• Individual 17 years of age or younger for adult-onset conditions
• Interpretation and reporting for molecular pathology procedure
• Polygenic risk score (PRS) and single nucleotide polymorphisms (SNPs)
• Repeat germline or somatic genetic testing
• Retrieved archival tissue

Humana recognizes that the field of genetic testing is rapidly changing and that other tests may become available.

Coverage Determination

Genetic Testing for Ehlers-Danlos Syndrome

Genetic testing may be excluded by certificate. Please consult the member's individual certificate regarding Plan coverage.

Apply General Criteria for Genetic and Pharmacogenomics Tests when disease- or gene-specific criteria are not available on a medical coverage policy. For information regarding General Criteria for Genetic and Pharmacogenomics Tests, please refer to Genetic Testing Medical Coverage Policy.

vEDS – Known Familial Pathogenic or Likely Pathogenic Variant (KFV)

Humana members may be eligible under the Plan for targeted analysis of COL3A1 gene KFV when the following criteria are met:

1. Pre- and post-test genetic counseling; AND
2. Individual to be tested has an affected first-degree relative with a pathogenic or likely pathogenic variant in the COL3A1 gene.

vEDS – Affected Individual

Humana members may be eligible under the Plan for sequence analysis of COL3A1 gene for vEDS when the following criteria are met:

• Pre- and post-test genetic counseling; AND
• Individual to be tested has a clinical diagnosis of vEDS and at least one of the following indications:
  • Arterial rupture; OR
  • First-degree relative diagnosed with vEDS; OR
  • Intestinal rupture; OR
  • Uterine rupture during pregnancy; OR
• Individual to be tested has at least two of the following signs and symptoms:
  • Acrogeria (aged appearance to extremities, particularly hands); OR
  • Arteriovenous carotid cavernous sinus fistula; OR
  • Characteristic facial appearance (eg, thin lips and philtrum, small chin, thin nose, large eyes); OR
  • Chronic joint subluxations/dislocations; OR
  • Clubfoot; OR
  • Congenital dislocation of the hips; OR
  • Early-onset varicose veins; OR
  • Easy bruising (spontaneous or with minimal trauma); OR
  • Gingival recession; OR
  • Hypermobility of small joints; OR
  • Pneumothorax/pneumohemothorax; OR
  • Tendon/muscle rupture; OR
  • Thin, translucent skin (especially noticeable on chest/abdomen)

vEDS – Unaffected Individual

Humana members may be eligible under the Plan for sequence analysis of COL3A1 gene for vEDS when the following criteria are met:

• Pre- and post-test genetic counseling; AND
• Individual to be tested is unaffected and has a first-degree relative who has been diagnosed with vEDS

Please refer to Coverage Limitations section for deletion/duplication analysis of COL3A1 gene.

Coverage Limitations

Humana members may NOT be eligible under the Plan for genetic testing for vEDS for any indications other than those listed above including:

• Genetic testing for EDS, classic type (COL5A1 and COL5A2 genes)
• KFV detection analysis if the individual to be tested previously received KFV testing, single gene analysis or multigene panel testing that would have detected the KFV

This is considered not medically necessary as defined in the member’s individual certificate.

Please refer to the member's individual certificate for the specific definition.

Humana members may NOT be eligible under the Plan for genetic testing for EDS for any indications other than those listed above including, but not limited to, the following:

• Deletion/duplication analysis of COL3A1 gene
• EDS, arthrochalasia (COL1A1, COL1A2 genes)
• EDS, dermatosparaxis (ADAMTS2 gene)
• EDS, hypermobility type (TNXB gene)
• EDS, kyphoscoliotic type (PLOD1 gene)
• EDS, periodontal type (C1R, C1S genes)
• Multigene panels unless ALL genes in the panel meet disease- or gene-specific criteria (81410 and 81411) (Refer to Coverage Determination section)

These are considered experimental/investigational as they are not identified as widely used and generally accepted for any other proposed uses as reported in nationally recognized peer-reviewed medical literature published in the English language.

Background

Additional information about EDS may be found from the following websites:

• Ehlers-Danlos Society
• National Library of Medicine

Medical Alternatives

Physician consultation is advised to make an informed decision based on an individual’s health needs.

Humana may offer a disease management program for this condition. The member may call the number on his/her identification card to ask about our programs to help manage his/her care.

Any CPT, HCPCS or ICD codes listed on this medical coverage policy are for informational purposes only. Do not rely on the accuracy and inclusion of specific codes. Inclusion of a code does not guarantee coverage and or reimbursement for a service or procedure.