PQNRU - Overview: Porphyrins, Quantitative, Random, Urine

Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen...

21DOC - Overview: 21-Deoxycortisol, Serum

As an adjunct to measurement of 17-hydroxyprogesterone, androstenedione, and cortisol in the diagnosis of difficult cases of suspected 21-hydroxylase (CYP21A2) deficiency Identifying heterozygote CYP21A2 deficiency carriers As an adjunct...

LCMAL - Overview: Malaria, Molecular Detection, PCR, Varies

Detection of Plasmodium DNA and identification of the infecting species An adjunct to conventional microscopy of Giemsa-stained films, particularly in cases of low percent parasitemia or suboptimal parasite morphology Detection and...

MISCF - Overview: Miscellaneous Studies Using Chromosome-Specific Probes, FISH

Resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved by chromosome or chromosomal microarray analysis Identifying gain, loss, or rearrangement of...

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.

PNEFC - Overview: Neuroimmunology Antibody Follow-up, Spinal Fluid

Monitoring patients who have previously tested positive for 1 or more antibodies within the past 5 years in a Mayo Clinic Neuroimmunology Laboratory spinal fluid evaluation

HIVDX - Overview: HIV-1 and HIV-2 Antigen and Antibody Diagnostic Evaluation, Plasma

Detecting HIV-1 and HIV-2 infection in symptomatic patients older than 2 years Follow-up testing of symptomatic individuals with reactive rapid HIV test results This test should not be used as a screening or confirmatory test for blood...

CHLBF - Overview: Cholesterol, Body Fluid

Aiding in the diagnosis of a cholesterol effusion or cholesterol-rich pseudochylous effusion in body fluids Distinguishing between chylous and pseudochylous pleural effusions Distinguishing between malignant and nonmalignant ascites

DRPL - Overview: Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies

Confirming the diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member

CDS1 - Overview: CNS Demyelinating Disease Evaluation, Serum

Diagnosis of inflammatory demyelinating diseases (IDDs) with similar phenotype to neuromyelitis optica spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...