CRCL - Overview: Creatinine Clearance, Serum and 24-Hour Urine

Estimation of glomerular filtration rate

NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

HVDSP - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Prenatal, Plasma

Confirmation and differentiation of HIV-1 and HIV-2 antibodies in plasma specimens from prenatal patients who show reactive results with 3rd- (HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This...

SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH

Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies

TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies

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

DD22F - Overview: 22q11.2 Deletion/Duplication, FISH, Varies

Establishing a diagnosis of 22q deletion/duplication syndromes Detecting cryptic rearrangements involving 22q11.2 or 22q11.3 that are not demonstrated by conventional chromosome studies

HVDIP - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Plasma

Confirmation and differentiation of HIV-1 and HIV-2 antibodies in plasma specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This test is not useful as...

TRYPU - Overview: Tryptophan, Random, Urine

Aiding in the screening and monitoring of Hartnup disease

ROC - Overview: Rubeola (Measles) Antibodies, IgG and IgM, Spinal Fluid

Diagnosing central nervous system rubeola (measles) virus infection and/or subacute sclerosing panencephalitis

MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies

Diagnosis of the subset of mitochondrial diseases that results from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...