WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...
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
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...
Evaluating hereditary thrombotic thrombocytopenic purpura (TTP) in patients with a personal or family history suggestive of thrombotic microangiopathy Confirming a hereditary TTP diagnosis with the identification of known or suspected...
FXS - Overview: Fragile X Syndrome, Molecular Analysis, Varies
Confirming a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene Determining carrier status for individuals with a family history of fragile X...
KETGP - Overview: Ketone Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...
MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...
PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...
PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies
Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...
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
newborn_screen_follow-up_for_glucose-6-phosphate_dehydrogenase__g-6-pd__deficiency.pdf
Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2024 Decreased glucose-6-phosphate dehydrogenase (G6PD) Not G6PD deficiency. In infants with hyperbilirubinemia, consider...
glucose-6-phosphate-dehydrogenase-deficiency-diagnostic-algorithm.pdf
© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Diagnostic Algorithm * If patient status is post-allogeneic stem...
Multi-Factor Authentication for Mayo Clinic Laboratories Applications User’s Guide Page 2 6/27/2024 Multi-Factor Authentication User’s Guide TABLE OF CONTENTS Introduction ....................
glucose-6-phosphate-dehydrogenase-genotyping-interpretive-algorithm.pdf
In the following situations, order G6PDZ / Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing: ■ To determine carrier status (female patient) or affected status (male patient) ■ Previous...
04/2024© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Acute Tickborne Disease Testing Algorithm for Mayo Clinic Order: SFGP / Spotted Fever Group Antibody, IgG and IgM, Serum Empiric treatment...