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SCN5A - Overview: Brugada Syndrome, SCN5A Full Gene Analysis, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome Establishing a diagnosis of Brugada syndrome

NTC3Z - Overview: NOTCH3 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders Identifying disease-causing variants...

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...

PHCGD - Overview: Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history of chronic granulomatous disease, Papillon-Lefevre syndrome, specific granule deficiency, leukocyte adhesion deficiency, or other phagocytic...

NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

HPCUT - Overview: Hematopathology Consultation, Client Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and nonhematologic diseases using bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...

ECMP - Overview: Eculizumab Monitoring Panel, Serum

Monitoring of complement blockage by eculizumab Assessing the response to eculizumab therapy Assessing the need for dose escalation Evaluating the potential for dose de-escalation or discontinuation of therapy in remission...

NGBCL - Overview: MayoComplete B-Cell Lymphoma, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with B-cell lymphomas

LNBAB - Overview: Lyme Central Nervous System Infection IgG with Antibody Index Reflex, Serum and Spinal Fluid

Aiding in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

MDSDF - Overview: Myelodysplastic Syndrome (MDS), Diagnostic FISH, Varies

Detecting recurrent common chromosome abnormalities associated with myelodysplastic syndromes or other myeloid malignancies using a panel As an adjunct to conventional chromosome studies in patients with MDS Evaluating specimens in...

APCRR - Overview: Activated Protein C Resistance V, with Reflex to Factor V Leiden, Blood and Plasma

Evaluating patients with incident or recurrent venous thromboembolism (VTE) Evaluating individuals with a family history of VTE

HPFLU - Overview: Influenza Virus Type A and Type B and Respiratory Syncytial Virus (RSV) RNA, Molecular Detection, PCR, Varies

Simultaneous detection of influenza A virus, influenza B virus, and respiratory syncytial virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses

HPRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Tissue

Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from gastric biopsies

ANA2 - Overview: Antinuclear Antibodies (ANA), Serum

Evaluating patients at-risk for antinuclear antibodies-associated systemic autoimmune rheumatic disease particularly systemic lupus erythematosus, Sjogren syndrome, and mixed connective tissue disease

WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood

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.

LCMSP - Overview: Microsporidia species, Molecular Detection, PCR, Varies

Detecting Enterocytozoon bieneusi and Encephalitozoon species in fecal and urine specimens to support the clinical diagnosis of microsporidiosis

MNB - Overview: Manganese, Blood

Evaluation of central nervous system symptoms, similar to Parkinson disease, in manganese (Mn) miners and processors Characterization of liver cirrhosis Therapeutic monitoring in treatment of cirrhosis, parenteral nutrition-related Mn...

1DIS - Overview: Human Leukocyte Antigens (HLA) A-B-C Disease Association Typing Low Resolution, Blood

Determining class I human leukocyte antigens (HLA) on specimens for those patients who have become refractory to platelet transfusions and identify potential disease associations or markers for drug hypersensitivity

GENRA - Overview: Gentamicin, Random, Serum

Monitoring adequacy of serum concentration during gentamicin therapy in specimens for which no collection timing information is provided

OLIG - Overview: Oligoclonal Banding, Serum and Spinal Fluid

Diagnosis of multiple sclerosis; especially useful in patients with equivocal clinical presentation and radiological findings

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

UEBF - Overview: Urea Nitrogen, Body Fluid

Identifying the presence of urine as a cause for accumulation of fluid in a body compartment Assessing adequacy of peritoneal dialysis treatment protocols

TRPS - Overview: Troponin T, 5th Generation, Plasma

Aiding in the exclusion of the diagnosis of acute coronary syndrome in a single plasma specimen Aiding in the diagnosis of acute coronary syndrome Monitoring acute coronary syndromes and estimating prognosis Possible utility in...

VALPA - Overview: Valproic Acid, Total, Serum

Monitoring total valproic acid in therapy Assessing compliance Evaluating potential toxicity

AMIO - Overview: Amiodarone, Serum

Monitoring amiodarone therapy, especially when amiodarone is coadministered with other drugs that may interact Evaluating possible amiodarone toxicity Assessing patient compliance

ZONI - Overview: Zonisamide, Serum

Monitoring zonisamide therapy; recommended for all patients to ensure appropriate dosing Assessing medication compliance

VLTS - Overview: Volatile Screen, Serum

Detection and quantitation of acetone, methanol, isopropanol, and ethanol in serum Quantification of the concentration of ethanol in serum correlates with degree of intoxication Evaluation of toxicity to the measured volatile substances

MNCU - Overview: Manganese/Creatinine Ratio, Urine

Measurement of manganese as a part of a profile Monitoring manganese exposure Nutritional monitoring Clinical trials

CZPS - Overview: Clonazepam and 7-Aminoclonazepam, Serum

Assessing patient compliance Monitoring for appropriate therapeutic level Assessing clonazepam toxicity

DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...

XCP - Overview: Hereditary Expanded Cancer Panel, Varies

Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 87 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...

STPCO - Overview: ThinPrep with Human Papillomavirus (HPV) Co-Test-Screen, Varies

Screening for cervical carcinoma or intraepithelial lesions and the presence or absence of high-risk human papillomavirus (HR-HPV) when screening women over the age of 30 for possible cervical neoplasia Detection of high-risk HPV genotypes...

CHRHB - Overview: Chromosome Analysis, Hematologic Disorders, Blood

Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available This test is not useful for congenital disorders.

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...

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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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