CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine

Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...

BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies

Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...

CDOMB - Overview: Cadmium for Occupational Monitoring, Blood

Detecting exposure to cadmium, a toxic heavy metal, as a part of occupational monitoring

SEWB - Overview: Selenium, Blood

Assessment of tissue stores of selenium

FUFXS - Overview: Fragile X, Follow-up Analysis

Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders

NGSHM - Overview: MayoComplete Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing, Varies

Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias)...

HSMWB - Overview: Hepatosplenomegaly Panel, Blood

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly This test is not useful for the identification of carriers. This test should not be used as a monitoring for patients with confirmed diagnoses.

GALK - Overview: Galactokinase, Blood

Diagnosis of galactokinase deficiency Evaluation of children with unexplained bilateral congenital or juvenile onset cataracts

LGBBS - Overview: Globotriaosylsphingosine, Blood Spot

Screening of patients with Fabry disease using dried blood spots when a serum specimen is not available This test should not be used for newborn screening followup.

GAPCR - Overview: Streptococcus Group A, Molecular Detection, PCR, Throat

Detecting group A streptococcal infections in patients with signs and symptoms of pharyngitis using a throat swab specimen The test is not intended for monitoring treatment for group A Streptococcus infections.