Genetic Testing in Patients with or Suspected of Congenital and/or Prelingual Nonsyndromic Hearing Loss

Genetic Testing in Patients with or Suspected of Congenital and/or Prelingual Nonsyndromic Hearing Loss

June 21, 2019 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing in patients with or suspected of congenital and/or prelingual nonsyndromic hearing loss. 

4Kscore Test (OPKO Health Inc.)

June 19, 2019 Genetic Test Evaluation

This report focuses on the analytical validity, clinical validity, and clinical utility of the 4Kscore Test.  

FoundationOne Liquid (Foundation Medicine Inc.)

June 13, 2019 Genetic Test Evaluation

This report evaluates the analytical validity, clinical validity, and clinical utility of the FoundationOne Liquid test.

Genetic Testing for Common Forms of Hereditary Thrombophilia in Adults With Unprovoked Venous Thromboembolism

May 21, 2019 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for common forms of hereditary thrombophilia in adults with unprovoked venous thromboembolism (VTE).

Decipher Prostate RP (Decipher Biosciences)

May 21, 2019 Genetic Test Evaluation

The report evaluates the analytical validity, clinical validity, and clinical utility of the Decipher Prostate RP test. 

Decipher Prostate Biopsy (Decipher Biosciences)

May 21, 2019 Genetic Test Evaluation

The report evaluates the analytical validity, clinical validity, and clinical utility of the Decipher Prostate Biopsy test.

ThyroSeq v3 (University of Pittsburgh Medical Center, CBLPath Inc.)

May 9, 2019 Genetic Test Evaluation

This report evaluates the analytical validity, clinical validity, and clinical utility of the ThyroSeq v3 test.

Prolaris Post-Prostatectomy (Myriad Genetic Laboratories Inc.)

April 19, 2019 Genetic Test Evaluation

This report evaluates the analytical validity, clinical validity, and clinical utility of the Prolaris Post-Prostatectomy test. According to Myriad Genetics Laboratories Inc., the Prolaris Post-Prostatectomy test is intended for diagnostic analysis of formalin-fixed paraffin-embedded (FFPE) tissue from resected prostate tumors for determination of biochemical recurrence risk within 10 years after prostatectomy.

Genetic Testing for Ehlers-Danlos Syndrome (EDS) in Patients with Joint Hypermobility, Skin Hyperextensibility, and/or Tissue Fragility

March 29, 2019 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for Ehlers-Danlos syndrome (EDS) in patients with joint hypermobility, skin hyperextensibility, and/or tissue fragility. This report will focus on the classical subtype, as well as rare EDS subtypes (which are classical-like EDS, cardiac-valvular EDS, arthrochalasia EDS, dermatosparaxis EDS, kyphoscoliotic EDS, brittle cornea syndrome, spondylodysplastic EDS, musculocontractural EDS, myopathic EDS, and periodontal EDS). 

Genetic Testing for Vascular Ehlers-Danlos Syndrome (vEDS)

March 29, 2019 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for vascular Ehlers-Danlos syndrome (vEDS) in 3 patient populations: Patients with vascular or digestive complications associated with vEDS. Patients who have a first-degree relative with a molecularly confirmed diagnosis of vEDS. Women with a personal or family history of vascular, digestive, or obstetric complications associated with vEDS for the purpose of family planning and/or pregnancy management.

Prolaris Biopsy Test (Myriad Genetic Laboratories Inc.)

March 29, 2019 Genetic Test Evaluation

The report evaluates the analytical validity, clinical validity, and clinical utility of the Prolaris Biopsy test. 

ConfirmMDx for Prostate Cancer (MDxHealth Inc.)

February 27, 2019 Genetic Test Evaluation

The report evaluates the analytical validity, clinical validity, and clinical utility of the ConfirmMDx test.

Genetic Testing for Factor V Leiden in Women with Unexplained Recurrent Pregnancy Loss

December 19, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of factor V Leiden mutation genetic testing in women with unexplained recurrent pregnancy loss.

Genetic Testing for Family Members of Individuals with Catecholaminergic Polymorphic Ventricular Tachycardia

December 11, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing in family members of individuals with catecholaminergic polymorphic ventricular tachycardia (CPVT). See Genetic Testing for Individuals Clinically Diagnosed with Catecholaminergic Polymorphic Ventricular Tachycardia report for individuals clinically diagnosed with CPVT.

Guardant360 (Guardant Health Inc.)

December 11, 2018 Genetic Test Evaluation

Guardant360 is a liquid biopsy noninvasive blood screen used to identify actionable alterations across all solid tumor sites and provide a report, which identifies Food and Drug Administration (FDA)-approved treatments and clinical trials to help guide treatment decisions. The focus of this review is to assess the evidence that supports the use of Guardant360 as a decision-making tool, which identifies potentially actionable genetic mutations to help guide treatment options. 

Genetic Testing for Individuals Clinically Diagnosed with Catecholaminergic Polymorphic Ventricular Tachycardia

December 11, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for catecholaminergic polymorphic ventricular tachycardia (CPVT) in individuals clinically diagnosed (defined as eliciting atrial arrhythmias and bidirectional or polymorphic ventricular tachycardia by stress test) with CPVT for management of the disorder leading to improved health outcomes. 

Genetic Testing for Hereditary Hemochromatosis in Patients with Iron Overload

November 29, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for HFE and non-HFE gene variants in symptomatic or asymptomatic patients who have biochemical iron overload (IO) and are suspected of hereditary hemochromatosis (HH).

Genetic Testing for Hereditary Hemochromatosis (HH) in Relatives of Patients with a Confirmed HH Diagnosis

November 29, 2018 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for hereditary hemochromatosis (HH)-related gene variants in relatives of patients with a confirmed diagnosis of HH.

clonoSEQ (Adaptive Biotechnologies)

November 15, 2018 Genetic Test Evaluation

This report evaluates the analytical validity, clinical validity, and clinical utility of Food and Drug Administration (FDA)-cleared clonoSEQ (Adaptive Biotechnologies) to detect and measure minimal residual disease (MRD) in bone marrow samples from patients with multiple myeloma or B-cell acute lymphoblastic leukemia in order to monitor changes in burden of disease during and after treatment. Also evaluated are non-FDA-cleared indications for MRD monitoring, including non-Hodgkin’s lymphoma, T-cell lymphoma, Sézary syndrome, and other malignancies.

Colvera (Clinical Genomics Pathology Inc.)

November 14, 2018 Genetic Test Evaluation

This report evaluates the analytical validity, clinical validity, and clinical utility of Colvera, a circulating tumor DNA (ctDNA) liquid biopsy test, to accurately identify residual disease or recurrence in patients with previously treated stage I through IV primary colorectal cancer (CRC).