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BTK - Overview: Bruton Tyrosine Kinase, Protein Expression, Flow Cytometry, Blood

Preliminary screening for X-linked agammaglobulinemia, primarily in male patients (<65 years) or female carriers (child-bearing age: <45 years)

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

HSVPV - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Varies

Aiding in the rapid diagnosis of herpes simplex virus (HSV) infections, including qualitative detection of HSV DNA in nonblood clinical specimens This test should not be used to screen asymptomatic patients.

GAL1P - Overview: Galactose-1-Phosphate, Erythrocytes

Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase

MPS3B - Overview: Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC This test is not useful 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...

FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively

NMOFC - Overview: Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Assay, Spinal Fluid

Diagnosis of a neuromyelitis optica spectrum disorder (NMOSD) Diagnosis of autoimmune AQP4 channelopathy Distinguishing NMOSD from multiple sclerosis early in the course of disease

NMOFS - Overview: Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Assay, Serum

Diagnosis of a neuromyelitis optica spectrum disorder (NMOSD) Diagnosis of autoimmune AQP4 channelopathy Diagnosis of neuromyelitis optica (NMO) Distinguishing NMOSD from multiple sclerosis early in the course of disease

NONCR - Overview: Neuro-Oncology Gene Panel, Rearrangements Only, Tumor

Identifying rearrangements that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying rearrangements within genes known to be associated with response or resistance to specific...

ROGM - Overview: Measles (Rubeola) Virus Antibody, IgM and IgG, Serum

Diagnosing measles virus infection Determination of immune status of individuals to the measles virus using IgG antibody testing Documentation of previous infection with measles virus in an individual without a previous record of...

PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease

PT217 - Overview: Phospho-Tau 217, Plasma

Evaluation of individuals, aged 50 years and older, presenting with cognitive impairment who are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening test for Alzheimer...

TGMS - Overview: Thyroglobulin Mass Spectrometry, Serum

Accurate measurement of serum thyroglobulin (Tg) in patients with known or suspected antithyroglobulin autoantibodies (TgAb) or heterophile antibodies (HAb) Reflex testing of samples with previously unknown TgAb status that prove TgAb...

RRPRS - Overview: Rapid Plasma Reagin Screen with Reflex to Titer, Serum

Aid for the diagnosis of infection with Treponema pallidum Rapid plasma reagin testing following a positive treponemal antibody test This test is not useful as a screening or confirmatory test for blood donor specimens.

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

RFPN - Overview: Rheumatoid Factor Panel, Serum

Evaluating patients at-risk of rheumatoid arthritis (RA) or features of inflammatory arthritis Differentiating the antibody isotype profile in patients positive for rheumatoid factor (RF) Aid in the risk stratification of RF-seropositive...

ARSAW - Overview: Arylsulfatase A, Leukocytes

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

EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood

Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.

LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot

Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.

FACEC - Overview: Angiotensin Converting Enzyme, CSF

Support diagnosis of neurosarcoidosis. May be used to evaluate treatment response.

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