HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...

CH9 - Overview: Chromogenic Factor IX Activity Assay, Plasma

Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia B using a 2-stage assay, especially when a 1-stage assay was normal

HL58R - Overview: HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies

Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele

HSVPB - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Blood

Aiding in the rapid diagnosis of disseminated disease due to herpes simplex virus (HSV) Qualitative detection of HSV DNA This test should not be used to screen asymptomatic patients.

TULAB - Overview: Francisella tularensis Antibody, IgM and IgG, ELISA, Serum

Aiding in the diagnosis of tularemia caused by Francisella tularensis This test should not be used as a test of cure as it is not quantitative. Patients may remain seropositive for months to years following resolution of disease.

MTBT - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Paraffin, Tissue

Preferred method for rapid detection of Mycobacterium tuberculosis complex DNA in formalin-fixed, paraffin-embedded tissue specimens Detecting M tuberculosis complex This test is not intended for the detection of latent tuberculosis and...

JO1 - Overview: Jo 1 Antibodies, IgG, Serum

Evaluating patients with clinical features of idiopathic inflammatory myositis, especially those with clinical features suggestive of anti-synthetase syndrome or interstitial lung disease

CARBI - Overview: Carbapenem Resistance Genes, Molecular Detection, PCR, Varies

Detecting and differentiating blaKPC, blaNDM, blaVIM, blaOXA-48, and blaIMP gene sequences associated with carbapenem intermediate or resistant results Aiding in infection control in the detection of gastrointestinal colonization of...

BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies

Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...

CHRTI - Overview: Chromosome Analysis, Skin Biopsy

Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities Subsequent chromosome analysis when results from peripheral blood are inconclusive