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Test Catalog

LNBAI - Overview: Lyme Central Nervous System Infection IgG, Antibody Index, Spinal Fluid

Providing antibody index information to aid in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification

MASF - Overview: Angiosarcoma, MYC (8q24) Amplification, FISH, Tissue

Identifying MYC amplification to aid in the differentiation of cutaneous angiosarcomas from atypical vascular lesions after radiotherapy

HIQNP - Overview: HIV-1 RNA Detection and Quantification, Prenatal, Plasma

Diagnosis of HIV-1 infection in pregnant individuals with acute or early HIV-1 infection Quantifying plasma HIV-1 RNA levels (viral load) in pregnant individuals living with HIV-1: -Before initiating anti-HIV-1 drug therapy (baseline viral...

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.

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

UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies

Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome

CRHEP - Overview: Chronic Viral Hepatitis (Unknown Type), Serum

Diagnosis and evaluation of patients with symptoms of hepatitis lasting more than 6 months Distinguishing between chronic hepatitis B and C

IMTF - Overview: Inflammatory Myofibroblastic Tumors (IMT), 2p23 (ALK) Rearrangement, FISH, Tissue

Supporting the diagnosis of inflammatory myofibroblastic tumors when used conjunction with an anatomic pathology consultation

GP210 - Overview: GP210 Antibody, IgG, Serum

Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease

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...

FUSF - Overview: Low-Grade Fibromyxoid Sarcoma (LGFMS), 16p11.2 (FUS or TLS) Rearrangement, FISH, Tissue

Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation

MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood

As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...

CIB - Overview: Cutaneous Direct Immunofluorescence Assay, Varies

Confirming a diagnosis of bullous pemphigoid, cicatricial pemphigoid, pemphigoid gestationis and other variants of pemphigoid, all types of pemphigus, including paraneoplastic pemphigus (paraneoplastic multiorgan syndrome), dermatitis...

BMAMA - Overview: Basic Metabolic Panel, Serum

Routine health monitoring or patient monitoring while hospitalized for information regarding metabolism, including the current kidney status, electrolyte, and acid/base balance, and blood glucose

MSDBS - Overview: Multiple Sulfatase Deficiency, Blood Spot

Supporting the biochemical diagnosis of multiple sulfatase deficiency This test is not useful for carrier detection.

ATTF - Overview: Antithrombin Activity, Plasma

Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate

HEXLA - Overview: Hexagonal Lupus Anticoagulant, Plasma

Confirming or excluding the presence of a lupus anticoagulant (LA), in conjunction with other appropriate coagulation tests Differentiating between deficiencies or inhibitors of specific coagulation factors and LA inhibitors Evaluating a...

TLCU - Overview: Immunoglobulin Total Light Chains, Urine

Monitoring patients whose urine demonstrates large M-spikes Confirming the quantitation of specimens that show M-spikes by electrophoresis Detecting urine monoclonal proteins and identification of specimens that need urine protein...

SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH

Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies

CLADP - Overview: Congenital Lactic Acidosis Panel, Varies

Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...

CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies

Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...

OPTMX - Overview: Opiate Confirmation, Chain of Custody, Meconium

Detecting maternal prenatal opiate/opioid use up to 5 months before birth Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the...

TCGRV - Overview: T-Cell Receptor Gene Rearrangement, PCR, Varies

Determining whether a T-cell population is polyclonal or monoclonal using body fluid or tissue specimens

PKU - Overview: Phenylalanine and Tyrosine, Plasma

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

MSDW - Overview: Multiple Sulfatase Deficiency, Leukocytes

Supporting the biochemical diagnosis of multiple sulfatase deficiency in whole blood specimens This test is not useful for carrier detection.

BWRS - Overview: Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or Russell-Silver syndrome (RSS) Prenatal diagnosis if there is a high suspicion of BWS/RSS based on ultrasound findings or in families at risk for BWS/RSS This assay...

CHIDB - Overview: Chimerism-Donor, Varies

Evaluating the donor cells prior to bone marrow transplant Determining the relative amounts of donor and recipient cells in a specimen An indicator of bone marrow transplant success

NGHIS - Overview: MayoComplete Histiocytic Neoplasms, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with histiocytic neoplasms

MPNR - Overview: Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies

Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating for variants in JAK2, CALR, and MPL genes in an algorithmic process

RFAMA - Overview: Renal Function Panel, Serum

Aiding in diagnosis and management of conditions affecting kidney function General health screening Screening patients at risk of developing kidney disease Management of patients with known kidney disease

FUROC - Overview: UroVysion for Detection of Bladder Cancer, Urine

Monitoring for tumor recurrence in patients with a history of urothelial carcinoma involving the bladder or upper urinary tract Assessing patients with hematuria for urothelial carcinoma

KCSF - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid

Diagnosing multiple sclerosis and other demyelinating conditions Evaluating patients who present with a clinically isolated syndrome in which the patient reports symptoms (headaches, optic neuritis, fatigue, and many others, depending on...

SEP9Z - Overview: SEPTIN9 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with hereditary neuralgic amyotrophy Identifying variants within SEPTIN9 known to be associated with hereditary neuralgic amyotrophy, allowing for predictive testing of at-risk family members

PHEPU - Overview: Previous Viral Hepatitis (Unknown Type), Serum

Determining if an individual has been infected following exposure to an unknown type of viral hepatitis virus Obtaining baseline serologic markers of an individual exposed to a source with an unknown type of hepatitis Determining...

CASF - Overview: IgG/Albumin Ratio, Spinal Fluid

Assessment of cerebrospinal fluid (CSF) IgG/albumin ratio in the absence of a paired CSF and serum specimen

LEFLU - Overview: Leflunomide Metabolite (Teriflunomide), Serum

Therapeutic monitoring of patients actively taking leflunomide Assessment of elimination in patients requiring enhanced elimination of the drug

MCRPL - Overview: Macroprolactin, Serum

Determining biologically active levels of prolactin, in asymptomatic patients with elevated prolactin levels Ruling out the presence of macroprolactin

Site Search

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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