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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

COGTF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with T-cell acute lymphoblastic leukemia in...

PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...

RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid

Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease

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...

2OHGP - Overview: 2-Hydroxyglutaric Aciduria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria Establishing a molecular diagnosis for patients with 2-hydroxyglutaric aciduria Identifying variants within genes known to be associated with...

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...

LPMGF - Overview: Lymphocyte Proliferation to Mitogens, Blood

Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...

AHUGP - Overview: Atypical Hemolytic Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) /Complement 3 Glomerulopathy (C3G) Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G) Establishing a diagnosis of...

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Information: Interpreting Laboratory Tests to Determine New vs. Residual Use of Marijuana - Insights

In this month's "Hot Topic," Paul Jannetto, Ph.D., identifies how to determine new vs. residual use of marijuana in a patient, and teaches how to calculate the carboxy-tetrahydrocannabinol (carboxy-THC)...

COVID-19: At-home sample collection vs. at-home testing - Insights

for COVID-19 sounds straightforward. But there's nuance to it that's important to understand. Right now, an at-home test for COVID-19 is not available, although there may be one coming soon. But in some...

Mayo Now Has Two Ninjas in the House - Insights

Candace Granberg, M.D., has a lot of titles, including surgeon, wife, mom, and volunteer. Now, she can add another: ninja warrior. The pediatric urologist is the second Mayo staff member chosen to participate...

The State of COVID-19 Now: Dr. Bill Morice - Insights

M.D. This week, Dr. Morice and Dr. Pritt step back and look at where the COVID-19 pandemic stands now, and they consider the potential effects that the omicron variant, expanded testing availability, and...

Hepatitis E - Diagnosis.indd

rights reserved. 07/2021 Hepatitis E: Testing Algorithm for Diagnosis and Management Immunocompetent patients with abnormal liver enzyme levels and at risk for hepatitis E virus (HEV) Immun......