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Test Catalog

VLCZ - Overview: Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis, Varies

Confirmation of a diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency Carrier screening in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or...

WEGG - Overview: Whole Egg, IgE, Serum

Establishing a diagnosis of an allergy to whole egg Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization prior...

KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor

Detecting molecular markers associated with response or resistance to specific cancer therapies

VHLE - Overview: VHL Gene, Erythrocytosis, Mutation Analysis, Varies

Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

PMND1 - Overview: Primary Membranous Nephropathy Diagnostic Cascade, Serum

Distinguishing primary from secondary membranous nephropathy using an algorithmic approach Monitoring patients with membranous nephropathy at very low antibody titers Screening for anti-phospholipase A2 receptor antibodies

CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...

RTRP2 - Overview: Tubular Reabsorption of Phosphorus, Random Urine and Serum

Assessing renal reabsorption of phosphorus in a variety of pathological conditions associated with hypophosphatemia including hypophosphatemic rickets, tumor-induced osteomalacia, and tumoral calcinosis Adjusting phosphate replacement...

CSFME - Overview: Meningitis/Encephalitis Pathogen Panel, PCR, Spinal Fluid

Rapid detection of meningitis and encephalitis caused by: -Escherichia coli K1 (K1 serotype only) -Haemophilus influenzae -Listeria monocytogenes -Neisseria meningitidis (encapsulated strains only) -Streptococcus agalactiae (Group B...

AECDP - Overview: Angioedema and Complement Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited complement disorder, including complement deficiency Providing a comprehensive genetic evaluation for patients with a...

BGA - Overview: Beta-Galactosidase, Leukocytes

Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis This test is not suitable for carrier detection.

IGA - Overview: Immunoglobulin A (IgA), Serum

Detection or monitoring of IgA monoclonal gammopathies and IgA-related immune deficiencies

CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors

CMAH - Overview: Chromosomal Microarray, Hematologic Disorders, Varies

Detection and characterization of clonal copy number imbalance and loss of heterozygosity associated with hematologic neoplasms Assisting in the diagnosis and classification of certain hematologic neoplasms Evaluating the prognosis for...

CORT - Overview: Cortisol, Serum

Discrimination between primary and secondary adrenal insufficiency Differential diagnosis of Cushing syndrome This test is not recommended for evaluating response to metyrapone.

HYOX - Overview: Hyperoxaluria Panel, Random, Urine

Distinguishing between primary and secondary hyperoxaluria Distinguishing between primary hyperoxaluria types 1, 2, and 3

GPSYP - Overview: Glucopsychosine, Plasma

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...

OXYWB - Overview: Oxysterols, Blood

Investigating a possible diagnosis of Niemann-Pick disease type A, B, or C using whole blood specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

OPATX - Overview: Opiates Confirmation, Chain of Custody, Random, Urine

Detection and quantification of codeine, hydrocodone, oxycodone, morphine, hydromorphone, oxymorphone, noroxycodone, noroxymorphone, norhydrocodone, dihydrocodeine, and naloxone in urine Chain of custody is required whenever the results of...

SZMON - Overview: Sezary Monitoring Flow Cytometry, Blood

Monitoring response to therapy in patients with previously diagnosed Sezary syndrome or mycosis fungoides

DHEA_ - Overview: Dehydroepiandrosterone (DHEA), Serum

Diagnosing and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) As an initial screen in adults with bioavailable testosterone measurement that may be supplemented with measurements of sex...

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...

CMA - Overview: Centromere Antibodies, IgG, Serum

Evaluating patients with features of systemic autoimmune rheumatic disease, particularly systemic sclerosis, Sjogren's syndrome, or overlap disease Aiding in the phenotypic stratification of patients with systemic sclerosis (limited...

CAH2T - Overview: Congenital Adrenal Hyperplasia Newborn Screen, Blood Spot

Second-tier testing of newborns with abnormal screening result for congenital adrenal hyperplasia

CHIKS - Overview: Chikungunya Virus, PCR, Molecular Detection, Serum

Qualitative detection of chikungunya virus in serum after early symptom onset (ideally <7 days) This test is not recommended for screening healthy patients.

FGEN - Overview: Fungal Culture, Routine

Diagnosing fungal infections from specimens other than blood, skin, hair, nails, and vagina (separate tests are available for these specimen sites)

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