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Test Catalog

LCAF - Overview: Lung Cancer, ALK (2p23) Rearrangement, FISH, Tissue

Identifying patients with non-small cell lung carcinoma who may benefit from treatment with directed tyrosine kinase inhibitors

TLPMF - Overview: T-Cell Lymphoma, Specified FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using client specified probes

BLPMF - Overview: B-Cell Lymphoma, Specified FISH, Varies

Detecting common chromosome abnormalities associated with specific B-cell lymphoma subtypes using client specified FISH probes This test should not be used to screen for residual B-cell lymphoma

MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia (MMA) Establishing a molecular diagnosis for patients with MMA Identifying variants within genes known to be associated with MMA, allowing for predictive...

HSMP - Overview: Hepatosplenomegaly Panel, Plasma

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

DDITF - Overview: Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue

Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13

UBT - Overview: Helicobacter pylori Breath Test

Diagnostic testing for Helicobacter pylori infection in patients suspected to have active H pylori infection Monitoring response to therapy This test is not appropriate for asymptomatic people.

MPHNU - Overview: Methylphenidate and Metabolite, Random, Urine

Monitoring urine methylphenidate and ritalinic acid concentrations to assess compliance in patients

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

HAEV1 - Overview: Hemolytic Anemia Evaluation, Blood

Evaluation of lifelong or inherited hemolytic anemias, including red blood cell membrane disorders, unstable or abnormal hemoglobin variants, and red blood cell enzyme disorders This evaluation is not suitable for acquired causes of...

CRANR - Overview: Cortisol, Free, Random, Urine

Investigating suspected hypercortisolism when a 24-hour collection is prohibitive (ie, pediatric patients)

TGOGF - Overview: TGFBR3 (1p22), OGA (10q24) Rearrangement, FISH, Tissue

Supporting the diagnosis of pleomorphic hyalinizing angiectatic tumor, or hemosiderotic fibrolipomatous tumors associated with rearrangement of the OGA and/or TGFBR3 gene when used in conjunction with an anatomic pathology consultation

PSAU - Overview: Prostate-Specific Antigen (PSA) Ultrasensitive, Serum

As an aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men aged 50 years and older To aid in the prognosis and management of individuals diagnosed with prostate cancer Monitoring disease...

CARGG - Overview: Comprehensive Arrhythmia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Establishing a diagnosis of a hereditary form of cardiac arrhythmia

SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members

ADMPU - Overview: Addiction Medicine Profile with Reflex, 22 Drug Classes, High Resolution Mass Spectrometry and Immunoassay Screen, Random, Urine

Detecting drug use involving stimulants, barbiturate, benzodiazepines, cocaine, opioids, tetrahydrocannabinol, alcohol, and nicotine This test is not intended for use in employment-related testing.

SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies

Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...

EOSMF - Overview: Chronic Eosinophilia, Specified FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1) using specified...

EOSDF - Overview: Chronic Eosinophilia, Diagnostic FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1). Supporting the...

NGCLN - Overview: MayoComplete Chronic Lymphoid Neoplasms, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with chronic or low-grade B-cell lymphoid neoplasms

TLYM - Overview: T-Cell Lymphoma, FISH, Tissue

Detecting common, recurrent chromosome abnormalities in various T-cell lymphomas in paraffin-embedded tissue specimens at diagnosis Providing prognostic information in patients with documented systemic ALK-negative anaplastic large cell...

CHRAF - Overview: Chromosome Analysis, Amniotic Fluid

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements

GBAZ - Overview: Gaucher Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified

DBMD - Overview: Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies

Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of...

AFPA - Overview: Alpha-Fetoprotein, Amniotic Fluid

Screening for open neural tube defects or other fetal abnormalities Follow-up testing for patients with elevated serum alpha-fetoprotein results or in conjunction with cytogenetic testing

JAK2M - Overview: JAK2 V617F Mutation Detection, Bone Marrow

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using bone marrow specimens

LDAI - Overview: Progentec aiSLE DX Lupus Disease Activity Index, Plasma

Aiding in the assessment of current systemic lupus erythematosus disease activity when used in conjunction with standard clinical assessment

PLPMA - Overview: Prolactin, Pituitary Macroadenoma, Serum

Quantifying prolactin in serum specimens where the high-dose hook effect is suspected (eg, presence of pituitary tumor with symptoms of prolactinoma, and lower than expected serum prolactin concentration)

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

T821Q - Overview: RUNX1-RUNX1T1 Translocation (8;21), Minimal Residual Disease Monitoring, Quantitative, Varies

Detection of RUNX1-RUNX1T1 gene fusion in acute myeloid leukemia patients at the time of diagnosis Minimal residual disease monitoring during the clinical and therapeutic course of these patients

DHTS - Overview: Dihydrotestosterone, Serum

Monitoring patients receiving 5-alpha reductase inhibitor therapy or chemotherapy Evaluating patients with possible 5-alpha reductase deficiency

CHF8P - Overview: Chromogenic Factor VIII Inhibitor Bethesda Profile, Plasma

Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII for patients on emicizumab (Hemlibra) Detecting the presence and titer of an inhibitor directed against factor VIII This test is not...

CORTF - Overview: Cortisol, Free, Serum

Assessment of cortisol status in cases where there is known or a suspected abnormality in cortisol-binding proteins or albumin Assessment of adrenal function in the critically ill or stressed patient, thus preventing unnecessary use of...

FLT - Overview: FLT3 Mutation Analysis, Varies

Prognostic indication for some patients with acute myeloid leukemia This test should not be used to monitor residual disease following treatment.

OPATU - Overview: Opiates Confirmation, Random, Urine

Detection and quantification of codeine, hydrocodone, oxycodone, morphine, hydromorphone, oxymorphone, noroxycodone, noroxymorphone, norhydrocodone, dihydrocodeine, and naloxone in urine

IPFGP - Overview: Idiopathic Pulmonary Fibrosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial idiopathic pulmonary fibrosis Establishing a diagnosis of familial idiopathic pulmonary fibrosis associated with known...

CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...

QHV6C - Overview: Human Herpesvirus-6 A and B DNA Detection and Quantification, PCR, Spinal Fluid

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

MDM2F - Overview: MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Identifying MDM2 amplification Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central...

EOIBD - Overview: Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited inflammatory bowel disorder Establishing a diagnosis of a monogenic early onset inflammatory bowel disease, allowing...

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Beyond Q-tips: The swabbing guide for SARS-CoV-2 - Insights

Webinar" will discuss the various types of swabs that can be used to collect specimens for SARS-CoV-2 molecular testing....

Cases with Dr. Keeney: Case #2 - Insights

detailing the ancillary studies and discussing the differential diagnosis of the cases. View case #2....

Other Archives - Page 2 of 2 - Insights

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Week in Review Archives - Page 2 of 2 - Insights

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