PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...

CARBR - Overview: Carbamazepine Hypersensitivity Pharmacogenomics, Varies

Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions

CRMP1 - Overview: Cardiovascular Risk Marker Panel, Serum

Assessment for risk of developing cardiovascular disease, major adverse cardiovascular events, or ischemic cerebrovascular events

IGFB3 - Overview: Insulin-Like Growth Factor-Binding Protein 3, Serum

Diagnosing growth disorders Diagnosing adult growth hormone deficiency Monitoring of recombinant human growth hormone treatment As a possible adjunct to insulin-like growth factor 1 and growth hormone in the diagnosis and follow-up of...

PTNZ - Overview: PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS) Establishing a diagnosis of PHTS allowing for targeted cancer surveillance based on associated risks Identifying variants within...

AGAW - Overview: Alpha-Galactosidase, Leukocytes

Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...

WBGDD - Overview: Beta-Globin Gene Cluster, Deletion/Duplication, Varies

Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta thalassemia; these large...

BCRAB - Overview: BCR/ABL1, p210, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Monitoring Chronic Myeloid Leukemia (CML), Varies

Monitoring response to therapy in patients with chronic myeloid leukemia who are known to have the e13/a2 or e14/a2 BCR/ABL1 fusion transcript forms

MCTGC - Overview: Chlamydia trachomatis and Neisseria gonorrhoeae, Miscellaneous Sites, Nucleic Acid Amplification, Varies

Detecting Chlamydia trachomatis and Neisseria gonorrhoeae in non-US Food and Drug Administration-approved specimen types This test is not intended for use in medico-legal applications. This test is not useful for the detection of...

EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood

Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.