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Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...

WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies

Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...

BLBLF - Overview: B-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in paraffin-embedded...

A1ALC - Overview: Alpha-1-Antitrypsin Proteotype S/Z, LC-MS/MS, Serum

Identification of homozygous and heterozygous S and Z proteotypes of alpha-1-antitrypsin deficiency

MMLSG - Overview: Antimicrobial Susceptibility, Acid-Fast Bacilli, Slowly Growing, Varies

Determination of resistance of slowly growing mycobacteria to antimicrobial agents

BRAZX - Overview: Brazil Nut Component, IgE, Serum

Evaluation of patients with suspected Brazil nut allergy to component Ber e 1

MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies

Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...

CASHR - Overview: Cashew, IgE with Reflex to Cashew Component, IgE, Serum

Evaluation of patients with suspected cashew allergy

P53CA - Overview: Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies

Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes This test is not intended for the evaluation of...

GPSY - Overview: Glucopsychosine, Blood Spot

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...

HCCAD - Overview: Hepatitis C Virus Antibody Screen, Cadaveric or Hemolyzed Specimens, Asymptomatic, Serum

Screening cadaveric or hemolyzed serum specimens for hepatitis C virus (HCV) infection in asymptomatic individuals with or without risk factors for HCV infection Note: In accordance with National Coverage Determination guidance, this test...

PNBX - Overview: Peripheral Nerve Pathology Consultation

Evaluating diseases of the nerve and disorders that affect nerve function

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.

GCTF - Overview: Germ Cell Tumor (GCT), Isochromosome 12p, FISH, Tissue

Supporting the diagnosis of germ cell tumors when used conjunction with an anatomic pathology consultation

METRN - Overview: Metanephrines, Fractionated, Random, Urine

A second-order screening test for the presumptive diagnosis of pheochromocytoma in patients with non-episodic hypertension Confirming positive plasma metanephrine results in patients with non-episodic hypertension

SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies

Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected

OHPG - Overview: 17-Hydroxyprogesterone, Serum

Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...

21DOC - Overview: 21-Deoxycortisol, Serum

As an adjunct to measurement of 17-hydroxyprogesterone, androstenedione, and cortisol in the diagnosis of difficult cases of suspected 21-hydroxylase (CYP21A2) deficiency Identifying heterozygote CYP21A2 deficiency carriers As an adjunct...

TMSI - Overview: Microsatellite Instability, Tumor

Evaluation of tumor tissue to identify patients at high risk for having Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer Evaluation of tumor tissue for clinical decision-making purposes given the prognostic and...

NR4A3 - Overview: NR4A3 (9q22.33) Rearrangement, FISH, Tissue

Identifying NR4A3 gene rearrangements Supporting the diagnosis of extraskeletal myxoid chondrosarcoma or acinic cell carcinoma when used in conjunction with an anatomic pathology consultation

CPR - Overview: C-Peptide, Serum

Diagnostic workup of hypoglycemia: -Diagnosis of factitious hypoglycemia due to surreptitious administration of insulin -Evaluation of possible insulinoma -Surrogate measure for the absence or presence of physiological suppressibility of...

MP9W - Overview: Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful 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.

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

AGAW - Overview: Alpha-Galactosidase, Leukocytes

Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...

HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...

GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies

Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...

DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies

Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...

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