ARSAW - Overview: Arylsulfatase A, Leukocytes

Preferred enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.

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.

CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors

WBGDD - Overview: Beta-Globin Gene Cluster, Deletion/Duplication, Varies

Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta thalassemia; these large...

17OHP - Overview: 17-Hydroxypregnenolone, Serum

As an ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...

HTLLC - Overview: Human T-Cell Lymphotropic Virus Types 1 and 2 (HTLV-1/-2) Antibody Confirmation, Spinal Fluid

Confirmatory detection of human T-cell lymphotropic virus types 1 and 2 (HTLV-1 and HTLV-2)-specific IgG antibodies in spinal fluid specimens that are consistently reactive by initial screening tests Differentiating between HTLV-1- and...

PERA - Overview: Preeclampsia sFlt-1/PIGF (Soluble fms-Like Tyrosine Kinase 1/ Placental Growth Factor) Ratio, Serum

Aiding in risk assessment of patients with clinical signs and symptoms consistent with development of preeclampsia with severe features This test is not intended for making a diagnosis of preeclampsia or preeclampsia with severe...

UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies

Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome

NMH24 - Overview: N-Methylhistamine, 24 Hour, Urine

Screening for and monitoring of mastocytosis and disorders of systemic mast-cell activation, such as anaphylaxis and other forms of severe systemic allergic reactions using 24-hour urine collection specimens Monitoring therapeutic...

APGAL - Overview: Galactose-Alpha-1,3-Galactose (Alpha-Gal) Mammalian Meat Allergy Profile, Serum

As an aid in diagnosis of an IgE mediated hypersensitivity allergy to non-primate mammalian red meat, such as beef, pork, venison, and meat-derived products, such as gelatin, via allergen profile testing This test is not useful in patients...