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newborn_screen_follow-up_for_x-linked_adrenoleukodystrophy.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2023 Newborn screen result: Elevated lysophosphatidylcholines C24:0, C26:0 Order POX / Fatty Acid Profile, Peroxisomal...

newborn-screen-follow-up-acid-sphingomyelinase-deficiency.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2023 Newborn screen result: decreased sphingomyelinase with or without abnormal 2nd-tier testing Order: ■ ASMW /...

syphilis_serology_algorithm.pdf

03/2022 © Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Syphilis Serology Algorithm * For patients with a prior known history of syphilis, a negative RPR suggests past...

newborn-screen-follow-up-decreased-citrulline.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2023 Newborn Screen Follow-up for Decreased Citrulline Newborn screen result: Decreased citrulline Perform: Plasma...

beckwith-wiedemann-and-russell-silver-syndrome-algorithm.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2025 Beckwith-Wiedemann and Russell-Silver Syndromes: Laboratory Approach to Diagnosis Order BWRS / Beckwith-Wiedemann...

prader-willi_and_angelman_syndromes_laboratory_approach_to_diagnosis.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2025 Prader-Willi and Angelman Syndromes: Laboratory Approach to Diagnosis ■ Order PWAS / Prader-Willi/Angelman Syndrome...

full_gene_analysis_-_multi-gene_panels_versus_familial_targeted_testing.pdf

03/2024© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Suspicion of a genetic condition The patient is the first family member to have genetic (DNA) testing for the...

erythrocytosis_evaluation_testing_algorithm.pdf

03/2023© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Erythrocytosis Evaluation Testing Algorithm Testing begins with: PVJAK / Polycythemia Vera, JAK2 V617F with...

aggressive_b_cell_lymphoma_diagnostic_algorithm.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2022 Aggressive B-cell Lymphoma Diagnostic Algorithm Morphology: diffuse large B-cell lymphoma (DLBCL), high grade...

lynch_syndrome_testing_algorithm.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2024 Lynch Syndrome Testing Algorithm Pathogenic variant identified Testing in family member was negative or variant...