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Test Catalog

RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies

Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...

ATAXP - Overview: Inherited Ataxia Gene Panel, Varies

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

CCMGG - Overview: Comprehensive Cardiomyopathy Gene Panel, Varies

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

NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...

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...

CKDGP - Overview: Cystic Kidney Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease Establishing a diagnosis of hereditary cystic kidney disease

CVHBG - Overview: Comprehensive Cerebrovascular Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident Establishing a diagnosis of a monogenic condition in which...

GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies

Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...

LIPOG - Overview: Lipodystrophy Gene Panel, Varies

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

IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...

SERU - Overview: Serotonin, 24 Hour, Urine

Diagnosis of a small subgroup of carcinoid tumors that produce predominately 5-hydroxytryptophan (5-HTP) but very little serotonin and chromogranin A Follow-up for patients with known or treated carcinoid tumors that produce predominately...

FIERA - Overview: IgE Receptor Antibody

The test detects functional autoantibodies to the Fc-epsilon receptor (high affinity IgE receptor) or to IgE and is useful in the evaluation of chronic urticaria.

VIP - Overview: Vasoactive Intestinal Polypeptide, Plasma

Detecting vasoactive intestinal polypeptide-producing tumors in patients with chronic diarrheal diseases

ALKLC - Overview: Anaplastic Lymphoma Kinase for Lung Cancer, Immunohistochemistry

Identification of anaplastic lymphoma kinase (ALK) expression Prediction of tumor response to targeted therapy of non-small cell lung carcinomas.

AMBF - Overview: Amylase, Body Fluid

Evaluation of patients with a pathological accumulation of fluid to determine whether pancreatic inflammation, pancreatic fistula, or esophageal rupture may be contributing Aiding in the diagnosis of pancreatitis

OLIGC - Overview: Oligoclonal Banding, Spinal Fluid

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

ALBFL - Overview: Albumin, Body Fluid

Aiding in identifying the cause of ascites Aiding in differentiating exudative and transudative pleural effusions

ASPBA - Overview: Aspergillus Antigen, Bronchoalveolar Lavage

Aiding in the diagnosis of invasive aspergillosis using bronchoalveolar lavage specimens Assessing response to therapy

LPSBF - Overview: Lipase, Body Fluid

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

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sequential-maternal-serum-screening-testing-algorithm.pdf

All rights reserved. Sequential Maternal Serum Screening Testing Algorithm Diagnostic testing should be offered Screen-positive: results reported Screen-negative: results reported No f......

newborn-screen-follow-up-elevated-c5-oh.pdf

Foundation for Medical Education and Research (MFMER). All rights reserved. Newborn Screen Follow-up for Elevated C5-OH Newborn screen result: Elevated 3-hydroxyisovaleryl- /2-methyl-3-hydroxybutyryl-carnitine...

newborn-screen-follow-up-elevated-c4-oh-acylcarnitine.pdf

rights reserved. 09/2023 Newborn screen result: Elevated C4-OH acylcarnitine Perform: Plasma ammonia, blood gas, glucose, electrolytes Order: ■ OAU / Organic Acids Screen, Random, Urine ■ ......

newborn-screen-elevated-c0-c16-c18.pdf

Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 08/20/23 Newborn screen results: ■ Elevated or normal free carnitine (C0) ■ Elevated C0/C16+C18 ratio Perform: Plasma ammonia...

newborn-screen-decreased-free-carnitineco.pdf

Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 07/2025 Newborn screen result: ■ Decreased free carnitine (C0) Perform: Plasma ammonia, blood gas, glucose, electrolytes...