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Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...

WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies

Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...

ARSAW - Overview: Arylsulfatase A, Leukocytes

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

QHV6P - Overview: Human Herpesvirus-6 A and B DNA Detection and Quantification, PCR, Plasma

As an adjunct in the rapid diagnosis of human herpesvirus-6 infection using plasma specimens This test should not be used to screen asymptomatic patients

CSTCE - Overview: Cystatin C with Estimated Glomerular Filtration Rate (eGFR), Serum

Assessing kidney function in patients suspected of having kidney disease Monitoring treatment response in patients with kidney disease An index of glomerular filtration rate (GFR), especially in patients where serum creatinine may be...

HSMBS - Overview: Hepatosplenomegaly Panel, Blood Spot

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly, using dried blood spot specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for...

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...

MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies

Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...

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...

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...

RPDEI - Overview: Rapidly Progressive Dementia Evaluation Interpretation, Spinal Fluid

Interpretation of the Rapidly Progressive Dementia Evaluation

PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue

Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...

MTBPZ - Overview: Mycobacterium tuberculosis Complex, Pyrazinamide Resistance by pncA DNA Sequencing, Varies

Detection of genotypic resistance to pyrazinamide by Mycobacterium tuberculosis complex isolates

MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue

Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation

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...

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

PTH2 - Overview: Parathyroid Hormone, Serum

Diagnosis and differential diagnosis of hypercalcemia Diagnosis of primary, secondary, and tertiary hyperparathyroidism Diagnosis of hypoparathyroidism Monitoring kidney failure patients for possible renal osteodystrophy

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

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

PT217 - Overview: Phospho-Tau 217, Plasma

Evaluation of individuals, aged 50 years and older, presenting with cognitive impairment who are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening test for Alzheimer...

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

VEDOL - Overview: Vedolizumab Quantitation with Reflex to Antibodies, Serum

Assessing the response to therapy with vedolizumab An aid to achieving desired trough serum concentration of vedolizumab

TFE3F - Overview: Alveolar Soft Part Sarcoma (ASPS)/Renal Cell Carcinoma (RCC), Xp11.23 (TFE3), FISH, Tissue

An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation

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...