GBAZ - Overview: Gaucher Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified

SYPH1 - Overview: Syphilis IgG with Reflex, Enzyme Immunoassay, Serum

Aid for the diagnosis of infection with Treponema pallidum using an algorithmic approach Routine prenatal screening This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful for...

PUPYU - Overview: Purines and Pyrimidines Panel, Random, Urine

Evaluating patients with symptoms suspicious for disorders of purine and pyrimidine metabolism Monitoring patients with disorders of purine and pyrimidine metabolism Laboratory evaluation of primary and secondary hyperuricemias

AAQP - Overview: Amino Acids, Quantitative, Plasma

Evaluating patients with possible inborn errors of metabolism using plasma specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances,...

BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...

CDHZ - Overview: Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome Establishing a diagnosis of HDGC syndrome allowing for targeted cancer surveillance based on associated risks...

NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

PCPDS - Overview: Plasma Cell Proliferative Disorder, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Bone Marrow

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using bone marrow specimens Identifying prognostic markers based on the abnormalities found This test should not be used to track the...

STK1Z - Overview: Peutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Peutz-Jeghers syndrome (PJS) Establishing a diagnosis of PJS allowing for targeted cancer surveillance based on associated risks Identifying variants within genes known...

EDSGG - Overview: Ehlers-Danlos Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked...