Highmark Commercial Medical Policy - Pennsylvania


 
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Medical Policy: L-186-004
Topic: Bloom Syndrome Testing
Section: Laboratory
Effective Date: November 13, 2017
Issue Date: November 13, 2017
Last Reviewed: June 2017

Bloom syndrome is a genetic disorder in which an individual’s chromosomes contain large breaks, gaps, or rearrangements and is caused by a genetic mutation in the BLM gene. The BML gene is essential to maintaining the stability of chromosomes during DNA replication and cell division. This Diagnosis can be confirmed by genetic testing and is needed to differentiate between other disorders with overlapping symptoms. There is no cure for Bloom syndrome. 

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.

Sister Chromatid Exchange (Chromosome Analysis for Breakage Syndromes)

Bloom syndrome testing may be considered medically necessary when the following criteria are met:

  • Genetic Counseling:
    • Pre and post-test genetic counseling by an appropriate provider; and
  • Previous Genetic Testing:
    • No previous sister chromatid exchange analysis performed; and
    • No previous BLM full sequencing, or BLM sequencing performed and only one mutation identified; and
    • No known BLM mutation in biologic relative; and
    • If Ashkenazi Jewish, targeted mutation analysis performed and no mutation detected or one mutation detected; and
  • Diagnostic Testing for Symptomatic Individuals:
    • Unexplained severe intrauterine growth retardation that persists throughout infancy and childhood (less than 5th percentile); or
    • An unusually small individual (less than 5th percentile) who develops erythematous skin lesions in the “butterfly area” of the face after sun exposure; or
    • An unusually small individual (less than 5th percentile) who develops a malignancy; or
  • Prenatal Testing for At-Risk Pregnancies:
    • Known increased risk due to affected first-degree relative.
Procedure Codes
88245


BLM Known Familial Mutation Analysis

Bloom syndrome testing may be considered medically necessary when the following criteria are met:

  • Genetic Counseling:
    • Pre and post-test genetic counseling by an appropriate provider; and
  • Previous Genetic Testing:
    • No previous genetic testing of BLM; and
  • Carrier Screening:
    • Known family mutation in BLM identified in 1st, 2nd, or 3rd degree biologic relative(s); or
  • Prenatal Testing for At-Risk Pregnancies:
    • BLM mutation identified in both biologic parents.
Procedure Codes
81403


BLM Targeted Mutation Analysis

Bloom syndrome testing may be considered medically necessary when the following criteria are met:

  • Genetic Counseling: 
    • Pre and post-test genetic counseling by an appropriate provider;  and
  • Previous Genetic Testing:
    • No previous BLM genetic testing, including AJ screening panels containing targeted mutation analysis for blmAsh;  and
  • Carrier Screening:
    • Ashkenazi Jewish descent; and
    • Have the potential and intention to reproduce.
Procedure Codes
81209


BLM Sequencing

Bloom syndrome testing may be considered medically necessary when the following criteria are met:

  • Genetic Counseling:
    • Pre and post-test genetic counseling by an appropriate provider;  and
  • Previous Genetic Testing:
    • No previous BLM full sequencing; and
    • No known BLM mutation in biologic relative; and
    • If Ashkenazi Jewish, targeted mutation analysis performed and no mutation detected or one mutation detected; and
  • Diagnostic Testing for Symptomatic Individuals:
    • Unexplained severe intrauterine growth retardation that persists throughout infancy and childhood (less than 5th percentile); or
    • An unusually small individual (less than 5th percentile) who develops erythematous skin lesions in the ”butterfly area” of the face after sun exposure; or
    • An unusually small individual (less than 5th percentile) who develops a malignancy; or
  • Testing for Individuals with Family History or Partners of Carriers:
    • 1st, 2nd, or 3rd degree biologic relative with Bloom syndrome clinical diagnosis, family mutation unknown, and testing unavailable; or
    • Partner is monoallelic or biallelic for BLM mutation; and
    • Have the potential and intention to reproduce.
Procedure Codes
81479


BLM Deletion/Duplication Analysis

Bloom syndrome testing may be considered medically necessary when the following criteria are met:

  • Genetic Counseling:
    • Pre and post-test genetic counseling by an appropriate provider;  and
  • Previous Genetic Testing:
    • Previous BLM full sequencing, and no mutations or only one mutation detected;  and
  • Diagnostic Testing for Symptomatic Individuals:
    • Unexplained severe intrauterine growth retardation that persists throughout infancy and childhood (less than 5th percentile); or
    • An unusually small individual (less than 5th percentile) who develops erythematous skin lesions in the ”butterfly area” of the face after sun exposure; or
    • An unusually small individual (less than 5th percentile) who develops a malignancy; or
  • Testing for Individuals with Family History or Partners of Carriers:
    • 1st, 2nd, or 3rd degree biologic relative with Bloom syndrome clinical diagnosis, family mutation unknown, and testing unavailable; or
    • Partner is monoallelic or biallelic for BLM mutation; and
    • Have the potential and intention to reproduce.
Procedure Codes
81479

Professional Statements and Societal Positions

Guidelines and Evidence

  • No evidence-based US guidelines have been identified for diagnostic testing.
  • A 2016 expert-authored review suggests the following diagnostic testing strategy:
    • "The diagnosis of Bloom Syndrome (Bsyn) is established in a proband with identification of biallelic pathogenic variants in BLM on molecular genetic testing or, if molecular genetic testing is inconclusive, with identification of increased frequency of sister-chromatid exchanges (SCEs) on specialized cytogenetic studies."
  • The American College of Medical Genetics (ACMG, 2008) and the American College of Obstetrics and Gynecologists (ACOG, 2009) support offering carrier testing for Bloom syndrome to individuals of Ashkenazi Jewish descent for the common blmAsh mutation.
    • Guidelines support the testing of individuals of Ashkenazi Jewish descent, even when their partner is non-Ashkenazi Jewish.  In this situation, testing would start with the individual who is Jewish and if blmAsh mutation is detected, sequencing of BLM in the non-Ashkenazi Jewish partner would follow.  If the woman is pregnant, testing may need to be conducted on both partners simultaneously in order to receive results in a timely fashion.
    • If one or both partners are found to be carriers of Bloom syndrome, genetic counseling should be provided and prenatal testing offered, if appropriate.
  •  A 2016 expert-authored review states:

    • "Carrier testing for at-risk relatives requires prior identification of the BLM pathogenic mutations in the family."

  • A 2016 expert-authored review states:
    • “Prenatal diagnosis for pregnancies at increased risk is possible by sister-chromatid exchange (SCE) analysis of fetal cells obtained by amniocentesis usually performed at about 15 to 18 weeks’ gestation or chorionic villus sampling (CVS) at approximately ten to 12 weeks’ gestation."
    • "If the BLM pathogenic variants have been identified in an affected family member, prenatal testing for pregnancies at increased risk may be available from a clinical laboratory that offers either testing of this gene or custom prenatal testing."
    • “Preimplantation genetic diagnosis (PGD) has been successfully utilized for one couple [Bloom's Syndrome Registry, unpublished data], and may be an option for some families in which the BLM pathogenic variants have been identified.”  

Place of Service: Outpatient

Bloom syndrome 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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