CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...

CJDE - Overview: Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid

Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia

CHRGB - Overview: Chimerism-Recipient Germline (Pretransplant), Varies

Evaluating the recipient cells prior to bone marrow transplant

CHIDB - Overview: Chimerism-Donor, Varies

Evaluating the donor cells prior to bone marrow transplant Determining the relative amounts of donor and recipient cells in a specimen An indicator of bone marrow transplant success

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

ROS1F - Overview: Lung Cancer, ROS1 (6q22) Rearrangement, FISH, Tissue

Fluorescence in situ hybridization (FISH) testing for ROS1 allows for the detection of most ROS1 rearrangements, therefore, is useful for identifying tumors that may be sensitive to directed therapy ROS1 FISH testing may also support the...

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

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.

AGAS - Overview: Alpha-Galactosidase, Serum

Diagnosis of Fabry disease in male patients Preferred screening test (serum) for Fabry disease This test is not useful for patients undergoing a work up for a meat or meat-derived product allergy.

CMAMT - Overview: Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue

Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities Diagnosing chromosomal causes for fetal death Determining recurrence risk of future...

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

METF - Overview: MET (7q31), FISH, Tissue

Providing prognostic information and guiding treatment primarily for patients with lung, gastric, and colorectal tumors as well as other tumor types

ETV6F - Overview: ETV6 (12p13.2) Rearrangement, FISH, Tissue

Detection of ETV6 rearrangements irrespective of the ETV6 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile...

FGFR2 - Overview: FGFR2 (10q26.1) Rearrangement, FISH, Tissue

Providing prognostic information and guiding treatment for patients with cholangiocarcinomas and other tumor types including bladder, thyroid, oral cavity, and brain

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...

TBPZA - Overview: Susceptibility, Mycobacterium tuberculosis Complex, Pyrazinamide, Varies

Susceptibility testing of Mycobacterium tuberculosis complex isolates growing in pure culture against pyrazinamide This test is not useful for Mycobacterium bovis and Myocobacterium bovis bacille Calmette-Guerin (BCG) isolates as they are...

STPCO - Overview: ThinPrep with Human Papillomavirus (HPV) Co-Test-Screen, Varies

Screening for cervical carcinoma or intraepithelial lesions and the presence or absence of high-risk human papillomavirus (HR-HPV) when screening women over the age of 30 for possible cervical neoplasia Detection of high-risk HPV genotypes...

LPAGF - Overview: Lymphocyte Proliferation to Antigens, Blood

Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...

DOGPF - Overview: Dog Dander, IgE, with Reflex to Dog Dander Components, IgE, Serum

Evaluating patients with suspected dog dander allergy

CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies

Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis (CF) and spinal muscular atrophy (SMA). Reproductive risk refinement via carrier screening for individuals with a family...

PIPU - Overview: Pipecolic Acid, Random, Urine

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in urine

TOXB - Overview: Toxoplasma gondii, Molecular Detection, PCR, Blood

Supporting the diagnosis of active toxoplasmosis, particularly in immunocompromised individuals

VMAR - Overview: Vanillylmandelic Acid, Random, Urine

Screening children for catecholamine-secreting tumors using a random urine collection when requesting vanillylmandelic acid only Supporting a diagnosis of neuroblastoma Monitoring patients with a treated neuroblastoma

GDF15 - Overview: Growth Differentiation Factor 15, Plasma

A circulating biomarker in myopathy-related mitochondrial disease as well as other conditions Investigation of patients suspected of having a mitochondrial myopathy This assay is not suitable for carrier detection.

PCTTC - Overview: Purkinje Cell Cytoplasmic Antibody, Type Tr (PCA-Tr) Titer, Spinal Fluid

Serological testing for Purkinje cell cytoplasmic antibody-Tr for patients with acquired cerebellar ataxia of undetermined etiology, particularly if the patient has a history of Hodgkin lymphoma Reporting an end titer result from spinal...

RIVAR - Overview: Rivaroxaban, Anti-Xa, Plasma

Measuring rivaroxaban concentration in selected clinical situations (eg, kidney insufficiency, assessment of compliance, periprocedural measurement of drug concentration, suspected overdose, advanced age, and extremes of body weight)

RSBV - Overview: Rare Subepithelial Autoimmune Blistering Disease Variants, Serum

Aiding in the diagnosis of rare subepithelial autoimmune blistering diseases, including anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and systemic bullous lupus erythematosus

PIPA - Overview: Pipecolic Acid, Serum

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in serum

HK27M - Overview: Histone H3 K27M Mutant (H3 K27M) Immunostain, Technical Component Only

Identifying the presence of altered H3 K27M protein

GDU - Overview: Gadolinium, 24 Hour, Urine

Assessing chronic exposure and monitoring effectiveness of dialysis in a 24-hour urine collection

GDS - Overview: Gadolinium, Serum

Aiding in documenting previous exposure to gadolinium-based contrast agents using serum specimens

GD65S - Overview: Glutamic Acid Decarboxylase (GAD65) Antibody Assay, Serum

Assessing susceptibility to autoimmune (type 1, insulin-dependent) diabetes mellitus and related endocrine disorders (eg, thyroiditis and pernicious anemia) Distinguishing between patients with type 1 and type 2 diabetes Confirming a...

FUFXS - Overview: Fragile X, Follow-up Analysis

Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders

FBL - Overview: Fungal Culture, Blood

Diagnosis and treatment of the etiologic agents of fungemia

LGB3S - Overview: Globotriaosylsphingosine, Serum

Diagnosis and monitoring of Fabry disease

MINT - Overview: Molecular Interpretation

Interpretation of the hereditary erythrocytosis profile

KI67B - Overview: Ki-67(MIB-1), Breast, Quantitative Immunohistochemistry, Automated

Determining proliferation of tumor cells in paraffin-embedded tissue blocks from patients diagnosed with breast carcinoma

APIXA - Overview: Apixaban, Anti-Xa, Plasma

Measuring apixaban concentration in selected clinical situations (eg, renal insufficiency, assessment of compliance, periprocedural measurement of drug concentration, suspected overdose, advanced age, and extremes of body weight)

CD40 - Overview: B-Cell CD40 Expression by Flow Cytometry, Blood

Evaluating patients for hyper-IgM type 3 (HIGM3) syndrome due to defects in CD40, typically seen in patients less than 10 years Assessing B-cell immune competence in other clinical contexts, including autoimmunity, malignancy, and...

HGUCR - Overview: Mercury/Creatinine Ratio, Random, Urine

Detecting mercury toxicity, a toxic heavy metal, using random urine specimens

SSCTU - Overview: S-Sulfocysteine Panel, Urine

Diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria Monitoring patients with molybdenum cofactor deficiency or isolated sulfite oxidase deficiency who are on treatment

2SC - Overview: S-(2-Succinyl)-Cysteine (2SC) Immunostain, Technical Component Only

Identification of high levels of aberrant S-(2-succino)-cysteine (2SC), secondary to pathogenic alterations of the fumarate hydratase (FH) gene

SUAC - Overview: Succinylacetone, Blood Spot

Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...

TQ10 - Overview: Coenzyme Q10, Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Monitoring patients receiving statin therapy Monitoring CoQ10 status during treatment of various degenerative conditions,...

PLABN - Overview: Platelet Antibody Screen, Serum

Detecting alloantibodies to epitopes on platelet glycoproteins IIb/IIIa, Ib/Ix, Ia/IIa, IV and class I human leukocyte antigens to evaluate cases of immune mediated refractoriness to platelet transfusions, posttransfusion purpura, or...

ALB24 - Overview: Albumin, 24 Hour, Urine

Evaluating diabetic patients to assess the potential for early onset of nephropathy

BMIPB - Overview: Borrelia miyamotoi Detection, PCR, Blood

Aiding in the diagnosis of Borrelia miyamotoi infection in conjunction with clinical findings Preferred method for detection of B miyamotoi using blood specimens

MSFNG - Overview: Fibronectin Glomerulopathy Confirmation, Mass Spectrometry

Aiding in the diagnosis of fibronectin glomerulopathy

HGOU - Overview: Mercury Occupational Exposure, Random, Urine

Detecting mercury toxicity due to occupational exposure in random urine specimens

MEV0 - Overview: Methemoglobin Summary Interpretation

Incorporating and summarizing subsequent results into an overall interpretation for the MEV1 / Methemoglobinemia Evaluation, Blood