This report reviews clinical study abstracts and clinical practice guidelines addressing genetic testing for hereditary spastic paraplegia (HSP).
Precision Medicine Insights
Precision Medicine Insights are non-analytical reports about genetic testing for rare inherited diseases that de- scribe findings from MEDLINE, genetic data- bases, and professional society websites. Includes abstracts from English-language, peer- reviewed clinical trials and review articles, information related to applicable regulatory approvals, National Coverage Determinations by CMS and major private payers, and to high- quality online sources.
T-Cell Receptor (TCR) Gene Rearrangement Testing for Mature/Peripheral T-Cell Lymphoma
This report reviews clinical study abstracts and clinical practice guidelines addressing molecular testing for monoclonal T-cell receptor (TCR) gene rearrangements to aid diagnosis and/or staging of mature/peripheral T-cell lymphoma.
Sotos Syndrome
This report reviews clinical study abstracts and clinical practice guidelines addressing genetic testing for Sotos syndrome.
CHARGE Syndrome
This report reviews clinical study abstracts and clinical practice guidelines addressing genetic testing for the familial form of CHARGE syndrome.
Genetic Testing for Monogenic Systemic Autoinflammatory Disorders (SAIDs)
Focus of Report: This report reviews clinical study abstracts and clinical practice guidelines addressing genetic testing for monogenic systemic autoinflammatory disorders (SAIDs). Autoinflammatory disorders that result from polygenic or multifactorial causes are not included in this report.
At least 38 separate monogeni…
Expanded Carrier Screening
Focus of Report: This report reviews clinical study abstracts and clinical practice guidelines addressing expanded carrier screening.