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Test Catalog

DESPR - Overview: Desipramine, Serum

Monitoring serum concentration of desipramine during therapy Evaluating potential desipramine toxicity May aid in evaluating patient compliance

DLAC - Overview: D-Lactate, Plasma

As an adjunct to urine D-lactate (preferred) for the diagnosis of D-lactate acidosis

RCVBS - Overview: Recoverin-IgG Antibody, Immunoblot, Serum

Evaluating patients with suspected paraneoplastic retinopathy accompanying small cell carcinoma

SDEX - Overview: Sickle Solubility, Blood

Screening for presence or absence of hemoglobin (Hb) S (sickle cell disease)

PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...

TSCP - Overview: Tuberous Sclerosis Gene Panel, Varies

Establishing a molecular diagnosis in individuals with features of tuberous sclerosis complex (TSC). Identifying pathogenic variants within the TSC1 and TSC2 genes known to be associated with TSC, allowing for predictive testing of at-risk...

VIRID - Overview: Viral Susceptibility, Defects in Intrinsic and Innate Immunity, Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity causing a hereditary form of severe viral susceptibility Establishing a diagnosis of hereditary form of...

CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease

QUAD1 - Overview: Quad Screen (Second Trimester) Maternal, Serum

Prenatal screening for open neural tube defect (alpha-fetoprotein only), trisomy 21 (alpha-fetoprotein, human chorionic gonadotropin, estriol, and inhibin A) and trisomy 18 (alpha-fetoprotein, human chorionic gonadotropin, and estriol)

KETGP - Overview: Ketone Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...

AGDD - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Varies

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

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...

MPSQU - Overview: Mucopolysaccharides Quantitative, Random, Urine

Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII

MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies

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

MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...

OXCO1 - Overview: Oxalate, Random, Urine

Monitoring therapy for kidney stones Identifying increased urinary oxalate as a risk factor for stone formation Diagnosis of primary or secondary hyperoxaluria

PACP - Overview: Prostatic Acid Phosphatase, Serum

Aiding in predicting recurrence after radical prostatectomy for clinically localized prostate cancer Following response to androgen ablation therapy, when used in conjunction with prostate-specific antigen

HIAAP - Overview: 5-Hydroxyindoleacetic Acid, Plasma

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using a plasma specimen

ZNCU - Overview: Zinc/Creatinine Ratio, Urine

Measurement of zinc concentration as a part of identifying the cause of abnormal serum zinc concentrations using a random urine specimen

21OH - Overview: 21-Hydroxylase Antibodies, Serum

Investigating adrenal insufficiency Aiding in the detection of those at risk of developing autoimmune adrenal failure in the future

VALPF - Overview: Valproic Acid, Free, Serum

Monitoring free valproic acid in therapy Assessing compliance Evaluating potential toxicity

VLTB - Overview: Volatile Screen, Blood

Detection and quantitation of acetone, methanol, isopropanol, and ethanol in whole blood Quantification of the concentration of ethanol in blood that correlates with the degree of intoxication Evaluation of toxicity to the measured...

VORI - Overview: Voriconazole, Serum

Monitoring trough levels of voriconazole is suggested for: -Individuals with reduced liver function -Individuals with cytochrome P450 (CYP) 2C19 alterations associated with poor metabolic function -Patients taking other medications that...

VITA - Overview: Vitamin A, Serum

Diagnosing vitamin A deficiency and toxicity Monitoring vitamin A therapy

PCAB - Overview: Parietal Cell Antibodies, IgG, Serum

Evaluating patients suspected of having pernicious anemia or autoimmune-mediated deficiency of vitamin B12 with or without megaloblastic anemia

HSTNI - Overview: Troponin I, High Sensitivity, Plasma

Excluding the diagnosis of acute coronary syndromes Explaining troponin T elevations related to skeletal myopathy and/or assay interferences

LY27B - Overview: HLA-B27, Blood

Assisting in the diagnostic process of ankylosing spondylitis, juvenile rheumatoid arthritis, and reactive arthritis

HIBSG - Overview: Haemophilus influenzae Type B Antibody, IgG, Serum

Assessing a patient's immunological (IgG) response to Haemophilus influenzae type B (HIB) vaccine Assessing immunity against HIB Aiding in the evaluation of immunodeficiency when the patient is tested pre- and post-vaccination

HQ - Overview: HemoQuant, Feces

Detection of blood in feces Evaluation of iron deficiency Detection of bleeding as a complication of anticoagulant therapy and other medication regimens This test is not specific for bowel cancer.

GGT - Overview: Gamma-Glutamyltransferase (GGT), Serum

Diagnosing and monitoring hepatobiliary disease, it is currently the most sensitive enzymatic indicator of liver disease Ascertaining whether observed elevations of alkaline phosphatase are due to skeletal disease (normal...

EHRC - Overview: Ehrlichia chaffeensis (HME) Antibody, IgG, Serum

An adjunct in the diagnosis of ehrlichiosis Seroepidemiological surveys of the prevalence of the infection in certain populations

FDERM - Overview: Fungal Culture, Dermal

Recovery and identification of dermatophyte fungi from hair, skin, and nail infected specimens

LPSBF - Overview: Lipase, Body Fluid

Determining whether pancreatic inflammation or pancreatic fistula may be contributing to a pathological accumulation of fluid

LACO - Overview: Lacosamide, Serum

Monitoring serum concentrations of lacosamide to ensure compliance and appropriate dosing in specific clinical conditions (ie, severe kidney impairment, mild-to-moderate hepatic impairment, and kidney failure)

IRON - Overview: Iron, Serum

Aiding in the evaluation of iron deficiency and iron overload diseases in combination with total iron binding capacity and percent saturation Assessment of acute iron poisoning

KINM - Overview: Ki-67(MIB-1), Gastrointestinal/Pancreatic Neuroendocrine Tumors, Quantitative Immunohistochemistry, Manual

Determining proliferation of tumor cells in paraffin-embedded tissue blocks from patients diagnosed with neuroendocrine tumors of the pancreas or gastrointestinal tract including metastases

LEFLU - Overview: Leflunomide Metabolite (Teriflunomide), Serum

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

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Pediatric neuro-oncology informative cases - Insights

Neuro-oncology is a complex field undergoing rapid changes with the advancement and evolution of sophisticated genetic testing. Evidence continues to grow in support of broad molecular and cytogenetic analysis for patients with brain...

Myeloproliferative Neoplasm: Morphology, Molecular Updates and Cost-Effective Test Utilization - Insights

The diagnosis of Myeloproliferative Neoplasm (MPN) must include an integrated approach and combine the clinical findings with laboratory results. In our latest “Hot Topic,” Rong He, M.D., discusses the subclassification of MPNs and the use...

MCL Autoimmune Axonal Neuropathy A Comprehensive Testing Approach MC2775425

MCL Autoimmune Axonal Neuropathy Comprehensive Testing Approach NEUROLOGY AUTOIMMUNE AXONAL NEUROPATHY COMPREHENSIVE TESTING APPROACH Patients neuropathy variable sensory motor disturbance loss exaggerated