VHLZZ - Overview: Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies

Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...

ARSBW - Overview: Arylsulfatase B, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.

GUSBB - Overview: Beta-Glucuronidase, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.

Q10 - Overview: Coenzyme Q10, Reduced and Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Diagnosis of CoQ10 deficiency in mitochondrial disorders Monitoring CoQ10 status during treatment of various degenerative...

DBS1 - Overview: Diabetes Mellitus Type 1 Evaluation, Serum

Distinguishing type 1 from type 2 diabetes mellitus Identifying individuals at risk of type 1 diabetes (including high-risk relatives of patients with diabetes) Predicting future insulin requirement treatment in patients with adult-onset...

ESBLS - Overview: Extended-Spectrum Beta-Lactamase-Producing Gram-Negative Bacteria Surveillance Culture, Feces

Screening for colonization of extended-spectrum beta-lactamase (ESBL)-producing organisms in stool Screening fecal microbiota transplant donor feces for ESBL-producing organisms. This test is not intended for medicolegal use.

I2SWB - Overview: Iduronate-2-Sulfatase, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) in whole blood specimens This test is not useful for carrier detection for MPS II.

MPS3W - Overview: Mucopolysaccharidosis III, Four-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC, IIID This test is not useful for carrier detection.

LNORO - Overview: Norovirus PCR, Molecular Detection, Feces

Diagnosing gastrointestinal disease (diarrhea or vomiting) caused by norovirus genogroups 1 and 2 This test should not be used as a test-of-cure.