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.


September 5, 2017 Genetic Test Evaluation

Bladder cancer is estimated to occur in approximately 79,030 Americans in 2017, and lead to approximately 16,870 deaths. The 5-year survival rate ranges from 95.7% for in situ tumors to 5.0% for distantly metastasized tumors, with an overall 5-year survival rate of 77.3% (National Cancer Institute - Cancer Stat Facts: Bladder Cancer). Risk factors for bladder cancer include: gender, positive family history, chemical exposures, previous exposure to chemotherapy agents, and chronic urinary tract infections (Centers for Disease Control and Prevention - Bladder Cancer). Traditional methods for diagnosing bladder cancer include physical examination, urinalysis, urine cytology, and cystoscopy. Bladder cancer has...

Periventricular Nodular Heterotopia (GeneDx)

September 5, 2017 Genetic Test Evaluation

Brain malformations are congenital abnormalities involving the structure of the brain leading to a variety of symptoms. Most often, these disorders cause problems in development and neurologic impairment. Seizures may be present. Cortical brain malformations are disorders of the cerebral cortex caused by abnormal proliferation, migration, and organization of neurons during brain development; they include congenital microcephaly, periventricular nodular heterotopias, lissencephaly, and polymicrogyria. Clinical features of these brain malformations may overlap. Brain malformations have been associated with a wide variety of genetic variants leading to the development of large multigene panels to further investigate the etiology of a patient’s symptoms....

ThyGenX and ThyraMIR (Interpace Diagnostics)

September 5, 2017 Genetic Test Evaluation

Thyroid nodules are an abnormal growth of thyroid cells that form a lump within the thyroid gland. While the majority of thyroid nodules are benign, they can be an indication of cancer. Thyroid cancer is relatively rare, with approximately 62,450 new cases diagnosed in the United States in 2017. Imaging studies with ultrasound, combined with cytological examination of thyroid biopsies collected by fine-needle aspiration (FNA), can aid in distinguishing between benign and cancerous thyroid nodules; however, from 10% to 25% of biopsies are indeterminate, meaning that a diagnosis of cancerous versus benign cannot be made on the basis of cytological...

NLRP3 Exon 3 Sequencing (GeneDx)

August 24, 2017 Genetic Test Evaluation

Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder that has onset during infancy or childhood. It is characterized by chronic or episodic urticarial rash, conjunctivitis, fever, arthralgia, and fatigue. Hearing loss and amyloidosis of the kidneys may occur later in the disease. Exposure to cold and other stimuli may cause symptoms to flare. Variants in the NLR family pyrin domain containing 3 (NLRP3) gene have been associated with MWS and related disorders. The NLRP3 gene encodes the cryopyrin protein that plays a role in the regulation of inflammation within the immune system. Increased activity of the cryopyrin protein in this...

MTHFR Genetic Testing for Severe MTHFR Enzyme Deficiency

August 17, 2017 Genetic Test Evaluation

This report evaluates the clinical utility for MTHFR genotyping in pediatric or adult patients to detect rare variants in order to improve case identification as well as treatment or family planning outcomes.