Test Catalog Search Results

MPS4W - Overview: Mucopolysaccharidosis IV Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB in whole blood specimens This test is not useful for carrier detection.

NCLBS - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 This test is not useful for carrier detection.

POXA1 - Overview: Oxalate, Plasma

Assessing the body pool size of oxalate in patients with enzyme deficiencies, such as primary hyperoxaluria (PH), or patients with enteric hyperoxaluria Aiding in the diagnosis of PH in a patient with chronic kidney disease of...

NTRK - Overview: NTRK Gene Fusion Panel, Tumor

Identifying solid tumors that may respond to targeted therapies by simultaneously assessing for fusions involving targeted regions of the NTRK1, NTRK2, and NTRK3 genes resulting in fusion transcripts. This test is not useful for...

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

ARSAW - Overview: Arylsulfatase A, Leukocytes

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

ARSU - Overview: Arylsulfatase A, 24 Hour, Urine

Detection of arylsulfatase A deficiency using urine specimens This test is not suitable for carrier detection.

INHB - Overview: Inhibin B, Serum

Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to overexpress inhibin B As an adjunct to...

HGEM - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Blood Spot

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...

AMGEN - Overview: Mycoplasma genitalium, Transcription-Mediated Amplification, Urine or Urogenital Swab

Detecting Mycoplasma genitalium in cases of suspected infection This test is not intended for use in medico-legal applications.

NAT2Q - Overview: N-Acetyltransferase 2 (NAT2) Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are substrates of arylamine N-acetyltransferase type 2, including isoniazid

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

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

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

FQPPS - Overview: Porphyrins, Feces

Evaluation of patients who present with signs or symptoms suggestive of porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, or X-linked dominant...

EBVAB - Overview: Epstein-Barr Virus Antibody Profile, Serum

Diagnosis of Epstein-Barr virus (EBV) infectious mononucleosis or other EBV related infections Identification of prior EBV infection as part of pre-immunosuppression screening This assay is not intended for viral isolation or...

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...

XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets within the FOXL2 gene

TP53 - Overview: TP53 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical management of patients with cancer This test is not intended for the evaluation of patients suspected of having an inherited or germline TP53 cancer syndrome (eg, Li Fraumeni syndrome).

TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor

Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification

RPR5 - Overview: Respiratory Profile, Region 5, Ohio Valley (IN, KY, OH, TN, WV), Serum

Assessing sensitization to various inhalant allergens commonly found in the Ohio Valley region including Indiana, Kentucky, Ohio, Tennessee, and West Virginia Defining the allergen responsible for eliciting signs and symptoms...

RPR4 - Overview: Respiratory Profile, Region 4, Subtropic Florida (Florida S. of Orlando), Serum

Assessing sensitization to various inhalant allergens commonly found in subtropic Florida, which is south of Orlando Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic...

RPR2 - Overview: Respiratory Profile, Region 2, Mid-Atlantic (DC, DE, MD, NC, VA), Serum

Assessing sensitization to various inhalant allergens commonly found in the Mid-Atlantic region including the District of Columbia, Delaware, Maryland, North Carolina, and Virginia Defining the allergen responsible for eliciting signs and...

RPR1 - Overview: Respiratory Profile, Region 1, North Atlantic (CT, MA, ME, NJ, NH, NY, PA, RI, VT), Serum

Assessing sensitization to various inhalant allergens commonly found in the North Atlantic region including Connecticut, Maryland, Maine, New Hampshire, New Jersey, New York, Pennsylvania, Rhode Island, and Vermont Defining the allergen...

RPR13 - Overview: Respiratory Profile, Region 13, Southern Coastal California, Serum

Assessing sensitization to various inhalant allergens commonly found in the Southern Coastal California region Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response...

RPR9 - Overview: Respiratory Profile, Region 9, Great Plains (KS, ND, NE, SD), Serum

Assessing sensitization to various inhalant allergens commonly found in the Great Plains region including Kansas, North Dakota, Nebraska, and South Dakota Defining the allergen responsible for eliciting signs and symptoms Identifying...

RPR7 - Overview: Respiratory Profile, Region 7, Northern Midwest (MI, MN, WI), Serum

Assessing sensitization to various inhalant allergens commonly found in the Northern Midwest region including Michigan, Minnesota, and Wisconsin Defining the allergen responsible for eliciting signs and symptoms Identifying...

RPR6 - Overview: Respiratory Profile, Region 6, South Central (AL, AR, LA, MS), Serum

Assessing sensitization to various inhalant allergens commonly found in the South-Central region including Alabama, Arkansas, Louisiana and Mississippi Defining the allergen responsible for eliciting signs and symptoms Identifying...

RPR11 - Overview: Respiratory Profile, Region 11, Rocky Mountain (AZ [Mt]; CO; ID [Mt]; NM, UT [Mt]; WY), Serum

Assessing sensitization to various inhalant allergens commonly found in the Rocky Mountain region including Arizona, Colorado, Idaho, New Mexico, Utah, and Wyoming Defining the allergen responsible for eliciting signs and symptoms...

RPR8 - Overview: Respiratory Profile, Region 8, Central Midwest (IA, IL, MO), Serum

Assessing sensitization to various inhalant allergens commonly found in the Central Midwest region including Iowa, Illinois, and Missouri Defining the allergen responsible for eliciting signs and symptoms Identifying...

RPR12 - Overview: Respiratory Profile, Region 12, Arid Southwest (Southern AZ Desert, Southern CA Desert), Serum

Assessing sensitization to various inhalant allergens commonly found in the arid Southwest region, including the southern Arizona desert and the southern California desert Defining the allergen responsible for eliciting signs and...

RPR3 - Overview: Respiratory Profile, Region 3, South Atlantic (GA, N.FA, SC), Serum

Assessing sensitization to various inhalant allergens commonly found in the South Atlantic region, including Georgia, Northern Florida, and South Carolina Defining the allergen responsible for eliciting signs and symptoms Identifying...

RPR15 - Overview: Respiratory Profile, Region 15, Intermountain West (Southern ID, NV), Serum

Assessing sensitization to various inhalant allergens commonly found in the Intermountain West region including southern Idaho and Nevada Defining the allergen responsible for eliciting signs and symptoms Identifying...

RPR14 - Overview: Respiratory Profile, Region 14, Central California, Serum

Assessing sensitization to various inhalant allergens commonly found in Central California Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response or anaphylactic...

RPR17 - Overview: Respiratory Profile, Region 17, Pacific Northwest (Northwestern CA, Western OR, WA), Serum

Assessing sensitization to various inhalant allergens commonly found in the Pacific Northwest including the region of Northwestern California, Western Oregon and Washington Defining the allergen responsible for eliciting signs and...

RPR16 - Overview: Respiratory Profile, Region 16, Inland Northwest (OR, Central and Eastern WA), Serum

Assessing sensitization to various inhalant allergens commonly found in the inland Northwest region, including Oregon and central and east Washington Defining the allergen responsible for eliciting signs and symptoms Identifying...

RPR19 - Overview: Respiratory Profile, Region 19, Puerto Rico, Serum

Assessing sensitization to various inhalant allergens commonly found in Puerto Rico Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response or anaphylactic episode -To...

RPR10 - Overview: Respiratory Profile, Region 10, Southwestern Grasslands (OK, TX), Serum

Assessing sensitization to various inhalant allergens commonly found in the Southwestern grasslands region, including Oklahoma and Texas Defining the allergen responsible for eliciting signs and symptoms Identifying...

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...

DPYDZ - Overview: Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies

Identifying individuals at increased risk of toxicity when considering 5-fluorouracil and capecitabine chemotherapy treatment Identifying common and rare variants associated with decreased or absent dihydropyrimidine dehydrogenase (DPD)...

MPS2B - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) Follow-up testing for evaluation of an abnormal newborn screening result for MPS II This...

CTNBT - Overview: B-Catenin Mutation Analysis, Next-Generation Sequencing, Tumor

Distinguishing desmoid-type fibromatosis from other soft tissue tumors by assessing gene targets within the beta-catenin (CTNNB1) gene

TSI - Overview: Thyroid-Stimulating Immunoglobulin, Serum

Second-order testing for autoimmune thyroid disease, including: -Differential diagnosis of etiology of thyrotoxicosis in patients with ambiguous clinical signs or contraindicated (eg, pregnant or breast-feeding) or indeterminate thyroid...

VASC - Overview: Antineutrophil Cytoplasmic Antibodies Vasculitis Panel, Serum

Evaluating patients with clinical features of anti-neutrophil cytoplasmic antibody-associated vasculitis, specifically granulomatosis with polyangiitis, microscopic polyangiitis, and eosinophilic granulomatosis with polyangiitis