This report evaluates the clinical utility of genetic testing for patients with clinically diagnosed autism spectrum disorder (ASD) and their first-degree relatives to determine genetic etiology, inform patient management, and improve outcomes.
Clinical Utility Evaluations
Clinical Utility Evaluations are comprehensive health technology assessments for complex genetic disorders and syndromes, which evaluate the impact of genetic testing on patient outcomes, diagnostic thinking, clinical decision making, and family members. These reports include the Hayes Clinical Utility Score, an overall rating of the strength and direction of the body of evidence for clinical utility of genetic testing for a specific indication.
Clinical Utility Evaluations provide evidence-based support for the development of coverage policy, utilization management, and evidence-based clinical practices. Used in conjunction with our Laboratory Insights database, these reports provide the critical evidence context to make decisions around multi-gene panel tests. Reports are reviewed annually up to 5 years post publication to determine if there is new literature or evidence that would impact a change in rating and warrant an updated report.
Whole Exome/Genome Sequencing for Neuromuscular Disease and Movement Disorders in Adults
This report evaluates the use of whole exome sequencing (WES) or whole genome sequencing (WGS) to inform clinical action and improve patient outcomes in adults > 18 years of age with undefined neurological phenotypes suggestive of neuromuscular disease or movement disorders who have had no definitive diagnosis following standard diagnostic tests.
Cell-Free DNA (cfDNA) (Formerly NIPS, NIPT) Screening for Fetal Chromosomal Copy Number Variants
This report evaluates the clinical utility of cell-free DNA (cfDNA) (formerly NIPS, NIPT) screening for fetal chromosomal copy number variants (CNVs) in women with singleton or twin pregnancies.
Pharmacogenomic Testing for Attention-Deficit/Hyperactivity Disorder Treatment
This report evaluates the clinical utility of pharmacogenomic testing to inform the selection or dose of medications for individuals diagnosed with attention-deficit/hyperactivity disorder (ADHD) to improve clinical outcomes.
Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Rare Autosomal Trisomies
This report evaluates the clinical utility of cell-free DNA (cfDNA) (formerly noninvasive prenatal testing [NIPT] or noninvasive prenatal screening [NIPS]) screening for fetal rare autosomal aneuploidy (RAA) in women with singleton or twin pregnancies.
Pharmacogenomic Testing of Selected Mental Health Conditions
This report evaluates the clinical utility of pharmacogenomic testing to inform the selection or dose of medications for individuals diagnosed with depression, bipolar disorder, schizophrenia spectrum or other psychotic disorder, or anxiety disorder to improve clinical outcomes.
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.
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.
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.
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.