PQNU - Overview: Porphyrins, Quantitative, 24 Hour, Urine

Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be...

HVPPS - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation Prenatal, Serum

Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum 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...

CRCGP - Overview: Hereditary Gastrointestinal Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome Establishing a diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis...

HIVDI - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Serum

Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays Confirmation and...

LSDS - Overview: Lysosomal Disorders Screen, Random, Urine

Screening patients suspected of having a lysosomal disorder

MMRV - Overview: Measles, Mumps, Rubella, and Varicella (MMRV) Immune Status Profile, Serum

Determining immune status of individuals to measles, mumps, rubella, and varicella-zoster viruses (VZV) Documentation of previous infection with measles, mumps, rubella, or VZV in an individual without a previous record of immunization to...

DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...

CDG - Overview: Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

Screening for congenital disorders of glycosylation This test is not useful for screening patients for chronic alcohol abuse.

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...

TTST - Overview: Testosterone, Total, Mass Spectrometry, Serum

Evaluating men with symptoms or signs of possible hypogonadism, such as loss of libido, erectile dysfunction, gynecomastia, osteoporosis, or infertility Evaluating boys with delayed or precocious puberty Monitoring testosterone...