PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies

Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies

POLET - Overview: POLE Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification

IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification

HPFRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Feces

Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from stool

TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma

AB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgA, Serum

Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgA antibodies Evaluating patients at-risk for antiphospholipid syndrome (APS) who are negative for criteria APS tests Estimating the...

BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces

Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption

CLLMF - Overview: Chronic Lymphocytic Leukemia, Specified FISH, Varies

Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have CLL...

CLLDF - Overview: Chronic Lymphocytic Leukemia, Diagnostic FISH, Varies

Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have...

NTRKM - Overview: NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying NTRK mutations that may predict resistance to Trk inhibitors

SPSA - Overview: Prostate-Specific Antigen (PSA) Screen, Serum

As a screening aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men 50 years or older Screening to aid in the prognosis and management of individuals diagnosed with prostate cancer

PSYCF - Overview: Psychosine, Spinal Fluid

Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...

TRYPT - Overview: Tryptase, Serum

Evaluation of individuals with suspected mast cell activation, which may occur as a result of anaphylaxis or allergen challenge Evaluation of patients with suspected mast cell activation syndrome Evaluation of patients with suspected...

HMGCR - Overview: 3-Hydroxy-3-Methylglutaryl Coenzyme-A (HMG-CoA) Reductase, Serum

Evaluating patients with suspected necrotizing autoimmune myopathy Measuring 3-hydroxy-3-methylglutaryl-CoA reductase antibodies

IL6DX - Overview: Interleukin-6, Serum

Evaluating patients with suspected chronic inflammatory disorders, such as rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, or inflammatory bowel disease Evaluating patients with Castleman disease Evaluating...

HEX4 - Overview: Glucotetrasaccharides, Random, Urine

Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene Monitoring patients with Pompe disease on enzyme replacement therapy May support the...

L3AFP - Overview: Alpha-Fetoprotein (AFP) L3% and Total, Hepatocellular Carcinoma Tumor Marker, Serum

Distinguishing between hepatocellular carcinoma and chronic liver disease Monitoring individuals with hepatic cirrhosis from any etiology for progression to hepatocellular carcinoma Surveillance for development of hepatocellular...

RO52 - Overview: Ro52 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

RO60 - Overview: Ro60 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

TCGRV - Overview: T-Cell Receptor Gene Rearrangement, PCR, Varies

Determining whether a T-cell population is polyclonal or monoclonal using body fluid or tissue specimens

DOCK8 - Overview: Dedicator of Cytokinesis 8 (DOCK8) Deficiency, Blood

Aiding in the diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency This test is not useful for assessing DOCK8 carrier status.

CRMTC - Overview: Collapsin Response-Mediator Protein-5 (CRMP-5) Neuronal IgG Titer, Spinal Fluid

Evaluation of neuroautoimmunity, particularly small-cell lung carcinoma and thymoma, in conjunction with other antineuronal antibodies Reporting an end titer result from cerebrospinal fluid specimens

CTXBS - Overview: Cerebrotendinous Xanthomatosis, Blood Spot

Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) using dried blood spot specimens Monitoring individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the...

CTXP - Overview: Cerebrotendinous Xanthomatosis, Plasma

Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) using plasma specimens Monitoring of individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the identification of...

CRITH - Overview: DNA Double-Stranded (dsDNA) Antibodies by Crithidia luciliae IFA, IgG, Serum

Confirmation testing for dsDNA IgG antibodies in patients with clinical features of systemic lupus erythematosus or at-risk for disease This test should not be used independently for monitoring treatment response or establishing...

288PD - Overview: Programmed Death-Ligand 1 (PD-L1) (28-8), Semi-Quantitative Immunohistochemistry, Manual

Identification of neoplasms expressing programmed cell death 1-ligand 1(clone 28-8)

ALPRT - Overview: Alport (Collagen IV Alpha 5 and Alpha 2) Immunofluorescent Stain, Renal Biopsy

Assisting in the diagnosis of hereditary nephritis (Alport syndrome)

HAEV0 - Overview: Hemolytic Anemia Summary Interpretation

Incorporating and summarizing subsequent results into an overall interpretation for the HAEV1 / Hemolytic Anemia Evaluation, Blood

GD65C - Overview: Glutamic Acid Decarboxylase (GAD65) Antibody Assay, Spinal Fluid

Possible use in evaluating patients with autoimmune encephalitis, stiff-person syndrome, autoimmune ataxia, autoimmune epilepsy, and other acquired central nervous system disorders affecting gabaminergic neurotransmission

AC1Q - Overview: Anti-C1q Antibodies, IgG, Serum

Evaluating patients with suspected anti-C1q vasculitis Predicting renal involvement in patients with systemic lupus erythematosus Detection of anti-C1q antibodies in serum

CLD18 - Overview: Claudin 18 (CLDN18) (43-14A), Semi-Quantitative Immunohistochemistry, Manual

Identification of tumor cells expressing claudin 18 As an aid in screening patients who may be eligible for VYLOY (zolbetuximab) treatment

MONOF - Overview: Monocyte Repartition by CD14/CD16, Blood

Aiding in the diagnosis and monitoring of chronic myelomonocytic leukemia

CDTA - Overview: Carbohydrate Deficient Transferrin, Adult, Serum

Indicating chronic alcohol abuse This test is not appropriate for screening patients for congenital disorders of glycosylation.

OLIGS - Overview: Oligoclonal Banding, Serum

Diagnosis of multiple sclerosis; especially useful in patients with equivocal clinical presentation and radiological findings Determining number of serum oligoclonal bands in order to calculate the number of cerebrospinal fluid-specific...

OLIG - Overview: Oligoclonal Banding, Serum and Spinal Fluid

Diagnosis of multiple sclerosis; especially useful in patients with equivocal clinical presentation and radiological findings

OLIGC - Overview: Oligoclonal Banding, Spinal Fluid

Diagnosis of multiple sclerosis; especially useful in patients with equivocal clinical presentation and radiological findings

IABCS - Overview: B-Cell Phenotyping Profile for Immunodeficiency and Immune Competence Assessment, Blood

Screening for common variable immunodeficiency and hyper-IgM syndromes Assessing B-cell subset reconstitution after stem cell or bone marrow transplant Assessing response to B-cell-depleting immunotherapy This test is not indicated...

PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...

PBCPN - Overview: Primary Biliary Cholangitis Antibody Panel, Serum

Evaluation of at-risk or previously diagnosed primary biliary cholangitis patients with new features of other liver diseases or systemic autoimmune diseases

PMCMG - Overview: Postmortem Cardiomyopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or with a personal or family history suggestive of a hereditary form of cardiomyopathy Identifying a disease-causing...

HMU24 - Overview: Heavy Metals Screen, with Reflex, 24 Hour, Urine

Detecting arsenic, cadmium, mercury, and lead exposure and toxicity using 24-hour urine specimens

MFRGG - Overview: Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,...

BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies

Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...

HISGT - Overview: Histone Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the H3-3A, H3-3B, H3C2, H3C3 and H3C14 genes that assist in tumor diagnosis/classification

H2MT - Overview: HER2 Amplification, Miscellaneous Tumor, FISH, Tissue

Guiding cancer therapy, as patients with HER2 amplification may be candidates for therapies that target the human epidermal growth factor receptor 2 (HER2) protein (eg, trastuzumab [Herceptin], pertuzumab) Confirming the presence of HER2...

SCCA - Overview: Squamous Cell Carcinoma Antigen, Serum

Aiding in the evaluation and monitoring of squamous cell carcinoma of the head and neck, lung, and cervix This test should not be used to screen for carcinoma or other disorders including those of the liver, lung, or skin.

CHIMS - Overview: Chimerism Transplant Sorted Cells, Varies

Determining the relative amounts of donor and recipient cells in a specimen in sorted cell fractions An indicator of bone marrow transplant success

CHIMU - Overview: Chimerism Transplant No Cell Sort, Varies

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

HPRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Tissue

Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from gastric biopsies

FINA - Overview: NAbFeron (IFNB-1) Neutralizing Antibody Test

Detection of antibodies to interferon-B-1