Genetic Test Evaluation

understanding how genetic tests impact patient management

The Genetic Test Evaluation program is a compilation of evidence-based assessments of genetic tests that provide clinicians with a clear,
objective view of the science behind genetic tests, the clinical evidence supporting them, and the use of these tests in clinical practice.

View a sampling of our GTE program.

Human Platelet Antigen 1 Genotype (Quest Diagnostics)

November 16, 2017 Genetic Test Evaluation

Fetal/neonatal alloimmune thrombocytopenia (FNAIT) is a potentially serious condition occurring in approximately 1 in 800 to 1 in 2000 live newborns. In the most severe cases of FNAIT, intracranial hemorrhage may occur. FNAIT is caused by the production of alloantibodies against a fetal platelet-specific antigen that is unknown to the maternal immune system. Specifically, more than 80% of cases are due to antigen incompatibility in human platelet antigen 1 (HPA-1) related to a single nucleotide polymorphism in the integrin beta-3 (ITGB3) gene. Carriers of the Leu33 allelic variant are classified as HPA-1a positive. Individuals with 2 copies of Pro33 allele...

HPA-1a (PLA1 Platelet Antigen) Genotyping (PLA2 Polymorphism Detection)

November 16, 2017 Genetic Test Evaluation

Fetal/neonatal alloimmune thrombocytopenia (FNAIT) is a potentially serious condition occurring in approximately 1 in 800 to 1 in 2000 live newborns. In the most severe cases of FNAIT, intracranial hemorrhage may occur. FNAIT is caused by the production of alloantibodies against a fetal platelet-specific antigen that is unknown to the maternal immune system. Specifically, more than 80% of cases are due to antigen incompatibility in human platelet antigen 1 (HPA-1) related to a single nucleotide polymorphism in the integrin beta-3 (ITGB3) gene. Carriers of the Leu33 allelic variant are classified as HPA-1a positive. Individuals with 2 copies of Pro33 allele...

CYP2C19 Pharmacogenomic Genotyping to Direct Clopidogrel Therapy for Secondary Prevention in Patients with a History of Stroke and/or Transient Ischemic Attack (TIA)

November 14, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for CYP2C19 pharmacogenomic genotyping to direct clopidogrel therapy for secondary prevention in adult patients who have experienced a stroke or transient ischemic attack (TIA).

AutismNext

November 9, 2017 Genetic Test Evaluation

According to the Centers for Disease Control and Prevention (CDC), approximately 1 in 6 children in the United States had a developmental disability in 2006-2008, ranging from mild disabilities, such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities (IDs), cerebral palsy, and autism. Autism spectrum disorder (ASD) has been identified in 1 in 68 children, according to estimates from the CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network. ASD may occur as an isolated disorder or be part of a genetic syndrome featuring multiple physical abnormalities. Genetic factors have been associated with neurodevelopmental disorders, including...

Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Chromosomal Copy Number Variants

November 9, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal chromosomal copy number variants (CNVs) 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 professional societies and medical practices support cfDNA screening for common trisomies for all pregnant women, regardless of risk. As many laboratories are offering analysis for CNVs along with aneuploidy cfDNA screening, it is important to evaluate published...