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Test Catalog

199PT - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Peritoneal Fluid

An adjunct to cytology to differentiate between malignancy-related ascites and benign causes of ascites formation

ALPSG - Overview: Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoimmune lymphoproliferative syndrome (ALPS) or related disorders Establishing a diagnosis of ALPS or a related disorder, allowing...

PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies

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

CAORG - Overview: Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary aortic disease Establishing a diagnosis for a variety of hereditary conditions involving aortic disease or overlapping clinical...

MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies

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

OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility

PCDGG - Overview: Primary Ciliary Dyskinesia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of primary ciliary dyskinesia Establishing a diagnosis of primary ciliary dyskinesia

GNMY9 - Overview: MYH9-Related Disorders, MYH9 Gene, Next-Generation Sequencing, Varies

Evaluating MYH9-related disorders, including May-Hegglin disorder/anomaly and Sebastian syndrome, in patients with a personal or family history suggestive of an MYH9-related disorder Diagnosing MYH9-related disorders, including May-Hegglin...

TTRZ - Overview: TTR Gene, Full Gene Analysis, Varies

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

TELDP - Overview: Telomere Biology Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a telomere biology disorder Establishing a diagnosis of a telomere biology disorder, allowing for appropriate management and...

SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...

DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies

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

IMMAU - Overview: Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...

LSDGP - Overview: Lysosomal Storage Disease Gene Panel, Varies

Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Establishing a molecular diagnosis for patients with LSD Identifying variants within genes known to be associated with LSD, allowing...

AFTDP - Overview: Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies

Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...

HPANP - Overview: Hereditary Pancreatitis Gene Panel, Varies

Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identifying gene variants contributing to pancreatitis in an individual or family Identifying gene variants to allow...

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...

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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...