This report evaluates the of genetic testing for common forms of hereditary thrombophilia in pediatric patients with unprovoked venous thromboembolism (VTE).
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.
Genetic Testing in Patients with or Suspected of Congenital and/or Prelingual Nonsyndromic Hearing Loss
This report evaluates the clinical utility of genetic testing in patients with or suspected of congenital and/or prelingual nonsyndromic hearing loss.
Genetic Testing for Common Forms of Hereditary Thrombophilia in Adults With Unprovoked Venous Thromboembolism
This report evaluates the clinical utility of genetic testing for common forms of hereditary thrombophilia in adults with unprovoked venous thromboembolism (VTE).
This report evaluates the clinical utility of genetic testing for autism spectrum disorder (ASD) to independently diagnose and improve outcomes in children younger than 5 years of age with suspected but not yet clinically diagnosed ASD.
HLA-DQ2/DQ8 Genotyping to Rule Out Celiac Disease in Symptomatic Individuals with an Uncertain Diagnosis
This report evaluates the clinical utility for the use of HLA-DQ2/DQ8 genotyping to rule out celiac disease (CD) in symptomatic individuals with an uncertain diagnosis.
This report evaluates the clinical utility for the use of HLA-DQ2/DQ8 genotyping in asymptomatic relatives of individuals with celiac disease (CD).
Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Trisomy 21, 18, and 13 in High-Risk Women
This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal trisomy 21, 18, and 13 in high-risk women with singleton or multiple gestation pregnancies. Populations at high risk for aneuploidy include women with advanced maternal age; parental Robertsonian translocation involving chromosome 21 or 13; a previous pregnancy with a trisomy; ultrasound findings as…
This report evaluates the clinical utility of genetic testing for familial hemiplegic migraine (FHM) in symptomatic individuals who meet clinical diagnostic criteria for FHM and for asymptomatic family members who have a relative with FHM and a known pathogenic variant.
This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for rare autosomal trisomies in women with singleton or multiple gestation pregnancies. There has been a large uptake of cfDNA fetal screening for common trisomies in women at high risk for fetal aneuploidy, with the majority of fetal cfDNA studies published in high-risk populations. In addition, some profess…
CYP2C19 Pharmacogenomic Genotyping to Direct Clopidogrel Therapy in Adult Patients Undergoing Percutaneous Coronary Intervention (PCI)
This report evaluates the clinical utility for CYP2C19 pharmacogenomic genotyping to direct clopidogrel therapy in adult patients undergoing percutaneous coronary intervention (PCI).