HCYSS - Overview: Homocysteine, Total, Serum

An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...

CATU - Overview: Catecholamine Fractionation, Free, 24 Hour, Urine

An auxiliary test to fractionated plasma and urine metanephrine measurements in the diagnosis of pheochromocytoma and paraganglioma An auxiliary test to urine vanillylmandelic acid and homovanillic acid determination in the diagnosis and...

PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia in a patient-collected specimen This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific...

ROMA - Overview: ROMA Score (Ovarian Malignancy Risk Algorithm), Serum

Risk assessment for finding an ovarian malignancy during surgery in women who present with an adnexal mass The test is not intended as a screening or stand-alone diagnostic assay for ovarian cancer.

PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia

AN2TC - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Spinal Fluid

Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...

AN2TS - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Serum

Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...

BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies

Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic...

LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot

Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.

MLH1 - Overview: MLH1 Immunostain, Technical Component Only

Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...