Resources

Reimbursement for Cystic Fibrosis Genetic Testing in the US

A summary of coverage, coding, and payment for cystic fibrosis carrier screening and diagnostic testing.

Reimbursement for Molecular Cytogenomic Testing in the US

A summary of coverage, coding, and payment for molecular cytogenomic testing.

Technology Evaluation Center-Blue Cross and Blue Shield Association. Special report: aCGH for the genetic evaluation of patients with developmental delay/mental retardation or autism spectrum disorder (2009)

Technology assessment for cytogenomic microarray analysis that evaluates evidence of how this technology improves diagnostic yield and outcomes in patients with developmental delay/mental retardation and autism spectrum disorder.

Molecular Pathology (MoPath) Codes 2013

The most recently approved molecular pathology codes.

Centers for Medicare and Medicaid Services (CMS) New and Reconsidered Clinical Laboratory Fee Schedule (CLFS) Test Codes (November 2012)

Official CMS ruling on Medicare reimbursement for MoPath and other new laboratory testing codes in 2013.

Centers for Medicare and Medicaid Services (CMS) 42 CFR 414.508. Subpart G-Payment for new clinical diagnostic laboratory tests

Excerpt from the Social Security Act that describes the gapfilling process.

Centers for Medicare and Medicaid Services (CMS) Medicare Claims Processing Manual Chapter 23 - Fee Schedule Administration and Coding Requirements. 40.4: Gap-Filled fees submitted to CMS by Carriers (Revised November 2011)

Excerpt from the Medicare Claims Processing Manual that describes the gapfilling process.

Manning M, Hudgins L (2010) Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 12: 742-745

Practice guidelines from ACMG that recommend cytogenomic microarray analysis as a first-line test for postnatal evaluation of individuals with (a) multiple anomalies not specific to a well-delineated genetic syndrome, (b) apparently non-syndromic developmental delay/intellectual disability; or (c) autism spectrum disorders.

Watson MS, Cutting GR. Desnick RJ, Driscoll DA, Klinger K, et al. (2004) Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6: 387-391

Report summarizing a recommendation from the ACMG Cystic Fibrosis Carrier Screening Working Group to (a) remove 1078delT and I148T; and (b) retain R117H in the ACMG CF carrier screening panel.

Jean Amos, et al. Technical Standards and Guidelines for CFTR Mutation Testing. American College of Medical Genetics. (Revised March 2011)

A technical educational resource for clinical laboratory geneticists that addresses (a) common CFTR mutations associated with racial/ethnic backgrounds, (b) indications for testing, and (c) detailed guidelines on different approaches to CFTR testing.

Committee Opinion: Update on carrier screening for cystic fibrosis. The American College of Obstetricians and Gynecologists (April 2011)

Current ACOG guidelines for cystic fibrosis carrier screening that recommends offering this test once to all women of reproductive age, among other recommendations.