Highmark Commercial Medical Policy - Pennsylvania |
Medical Policy: | L-161-004 |
Topic: | Angelman Syndrome Testing |
Section: | Laboratory |
Effective Date: | November 13, 2017 |
Issue Date: | November 13, 2017 |
Last Reviewed: | June 2017 |
Angelman syndrome (AS) is characterized by developmental delay with intellectual disability, severe speech impairment — usually with minimal or no word use, gait ataxia and limb tremors, seizures and microcephaly, happy demeanor with hand flapping and a decreased need for sleep. Features of AS are caused by a missing or defective UBE3A gene inherited from the patient’s mother. |
This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.
Policy Position Coverage is subject to the specific terms of the member’s benefit plan. |
AS testing may be considered medically necessary when the following criteria are met:
SNRPN/UBE3A Methylation Analysis
AS testing may be considered medically necessary when the following criteria are met:
FISH Analysis for 15q11-q13 Deletion
AS testing may be considered medically necessary when the following criteria are met:
Chromosome 15 Uniparental Disomy
AS testing may be considered medically necessary when the following criteria are met:
Imprinting Center Defect Analysis
AS testing may be considered medically necessary when the following criteria are met:
UBE3A Sequencing
AS testing may be considered medically necessary when the following criteria are met:
UBE3A Deletion/Duplication Analysis
AS testing may be considered medically necessary when the following criteria are met:
UBE3A Known Familial Mutation Analysis or Imprinting Center Known Familial Mutation Analysis
Professional Statements and Societal Positions |
Consensus guidelines from the American College of Medical Genetics and American Society of Human Genetics (2006) recommend two equally-accepted tiered approaches to testing.
An expert-authored review (2011) comments on the utility of familial mutation analysis:
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Place of Service: Outpatient |
AS testing is typically an outpatient procedure which is only eligible for coverage as an inpatient procedure in special circumstances, including, but not limited to, the presence of a co-morbid condition that would require monitoring in a more controlled environment such as the inpatient setting.
The policy position applies to all commercial lines of business |
Denial Statements |
Services that do not meet the criteria of this policy will not be considered medically necessary. A network provider cannot bill the member for the denied service unless: (a) the provider has given advance written notice, informing the member that the service may be deemed not medically necessary; (b) the member is provided with an estimate of the cost; and (c) the member agrees in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.
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