This report evaluates the use of whole exome sequencing (WES) or whole genome sequencing (WGS) to inform clinical action and improve patient outcomes in children aged ≤ 18 years with undefined neurological phenotypes but no definitive diagnosis following standard diagnostic tests.
Precision Medicine
The explosion of genetic and molecular medicine has produced mountains of options and evidence. Conversely, there is often an alarming lack of evidence. This is where we come in.We help you manage the flood of tests and drugs that emerge in this category daily. Accessed through the Hayes Knowledge Center, our comprehensive Precision Medicine solution focuses on thousands of genetic, genomic, and molecular diagnostic tests and precision medicine therapies addressing the questions our clients most frequently ask:
- Will testing change patient management for this indication?
- If so, what tests and/or therapies should I use?
- Should we cover testing and/or therapies?
- Can we manage these services internally?
- Precision Medicine Insights
- Precision Medicine Research Briefs
Whole Exome/Genome Sequencing for Previously Undiagnosed Pediatric Neurodevelopmental Disorders
This report evaluates the use of whole exome sequencing (WES) or whole genome sequencing (WGS) to inform clinical action and improve patient outcomes in children aged ≤ 18 years with undefined neurological phenotypes but no definitive diagnosis following standard diagnostic tests.
Facioscapulohumeral Muscular Dystrophy (FSHD)
This report reviews clinical study abstracts and clinical practice guidelines addressing genetic testing for facioscapulohumeral muscular dystrophy (FSHD).
Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Sex Chromosome Aneuploidy
This report evaluates the clinical utility of cell-free DNA (cfDNA) (formerly NIPS, NIPT) screening for fetal sex chromosome aneuploidy (SCA) in women with singleton or twin pregnancies.
Hereditary Spastic Paraplegia
This report reviews clinical study abstracts and clinical practice guidelines addressing genetic testing for hereditary spastic paraplegia (HSP).
GeneSight Psychotropic (Assurex Health Inc./Myriad Neuroscience)
This report evaluates the analytical validity, clinical validity, and clinical utility of the GeneSight Psychotropic (Myriad Neuroscience) test.
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.
Oncotype DX AR-V7 Nucleus Detect (Epic Sciences)
This report evaluates the analytical validity, clinical validity, and clinical utility of the Oncotype DX AR-V7 Nucleus Detect test.
Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Trisomy 21, 18, and 13 in Women with Twin Pregnancies
This report evaluates the clinical utility of cell-free DNA (cfDNA) (formerly NIPS, NIPT) screening for fetal trisomy 21, 18, and 13 in women with twin pregnancies.