GALCW - Overview: Galactocerebrosidase, Leukocytes

Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.

WGSEQ - Overview: Gamma-Globin Full Gene Sequencing, Varies

An adjunct in the interpretation of hemoglobin electrophoresis results Evaluation for suspected gamma variants or nondeletional hereditary persistence of fetal hemoglobin Assessment of unstable gamma chain variants when other tests for...

FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture

In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase deficiency -Medium-chain acyl-CoA dehydrogenase deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase...

MRSAP - Overview: Methicillin Resistant Staphylococcus aureus, PCR, Nasal

Rapid screening test for Staphylococcus aureus nasal carriage that, if positive, indicates whether the S aureus is methicillin susceptible or resistant This test should not be used to guide or monitor treatment for methicillin-resistant S...

TLYME - Overview: Lyme IgM and IgG, Whole Cell Sonicate, ELISA, Serum

Supplemental testing for samples with positive or equivocal first-tier test results for antibodies to Lyme disease causing Borrelia species This test should not be used as a screening procedure for the general population.

MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies

Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...

CTB - Overview: Mycobacteria and Nocardia Culture, Varies

Detection and identification of Mycobacterium species, Nocardia species, and other aerobic actinomycetes

NADF - Overview: Newborn Aneuploidy Detection, FISH, Blood

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens

NAT2Q - Overview: N-Acetyltransferase 2 (NAT2) Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are substrates of arylamine N-acetyltransferase type 2, including isoniazid

TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor

Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification