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PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance

HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia

HPWET - Overview: Hematopathology Consultation, MCL Embed

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

NONCP - Overview: Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor

Identifying mutations and rearrangements that may support a diagnosis or help determine prognosis for patients with CNS tumors Identifying specific mutations and rearrangements within genes known to be associated with response or...

NCLGP - Overview: Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies

Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL) Establishing a molecular diagnosis for patients with NCL Identifying variations within genes known to be associated with...

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...

CACMG - Overview: Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies

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

MSAES - Overview: Myositis Specific Antibody Evaluation, Serum

Accurately diagnosing, classifying, and managing idiopathic inflammatory myopathies (IIM) by identifying subtype-specific biomarkers that guide prognosis and treatment Enabling early detection of IIM, particularly in atypical or severe...

TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood

Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...

LQTSG - Overview: Long QT Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of long QT syndrome (LQTS) Establishing a diagnosis of LQTS

GLICP - Overview: CD8 T-Cell Immune Competence Panel, Global, Whole Blood

Determining over immunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents

SPPS - Overview: Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Serum

Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using serum specimens

BAKDM - Overview: BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies

Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...

OXYBS - Overview: Oxysterols, Blood Spot

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.

LPSC1 - Overview: Lipid Panel, Serum

Managing atherosclerotic cardiovascular disease risk using serum specimens

MCOCP - Overview: MayoComplete Ovarian, Fallopian Tube, and Peritoneal Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions

SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma

MCGST - Overview: MayoComplete Gastrointestinal Stromal Tumor (GIST) Panel, Next-Generation Sequencing, Tumor

Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability

HL57R - Overview: HLA-B*57:01 Genotype, Pharmacogenomics, Varies

Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele Identifying individuals taking pazopanib who have an increased risk of...

NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

PANGP - Overview: Expanded Pancreatitis Gene Panel, Varies

Confirmation of suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identification of gene variants contributing to pancreatitis in an individual or family Identification of gene...

AATHR - Overview: Thrombophilia Profile, Plasma and Whole Blood

Evaluating patients with thrombosis or hypercoagulability states Detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular coagulation/intravascular coagulation and fibrinolysis Detecting a deficiency of...

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