KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
Diagnosing infections due to Mycoplasma (Mycoplasmoides) pneumoniae Assessing macrolide susceptibility
GALCW - Overview: Galactocerebrosidase, Leukocytes
Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.
Predicting macrolide susceptibility in Mycoplasma (Mycoplasmoides) pneumoniae
CURCU - Overview: Copper/Creatinine Ratio, Random, Urine
Investigation of Wilson disease and obstructive liver disease using a random urine specimen
CURC - Overview: Copper/Creatinine Ratio, Urine
Measurement of copper concentration of a part of the investigation of Wilson disease and obstructive liver disease using a random urine specimen
GALCR - Overview: Galactocerebrosidase Reflex, Leukocytes
Diagnosis of Krabbe disease as a confirmatory reflex of the six-enzyme panel Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not recommended for carrier detection because of the...
MHBRP - Overview: Metamycoplasma hominis, Molecular Detection, PCR, Blood
Rapid, sensitive, and specific identification of Metamycoplasma hominis from whole blood This test is not intended for medicolegal use.
SATB2 - Overview: SATB2 Immunostain, Technical Component Only
Identification of colorectal carcinoma and rectal neuroendocrine tumors
MHPRP - Overview: Metamycoplasma hominis, Molecular Detection, PCR, Plasma
Rapid, sensitive, and specific identification of Metamycoplasma hominis from plasma This test is not intended for medicolegal use.
Pathways Case Studies: November 2019 - Insights
This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for November include the following sub-specialties: Cytogenetics, Genetics,...
Frequently asked questions - Insights
Check out how chromosomal microarray testing at Mayo Clinic Laboratories can help optimize treatment for neurological tumors.
newborn_screen_follow-up_for_krabbe_disease_galactocerebrosidase.pdf
© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 08/2024 Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase Newborn screening result: decreased galactocerebrosidase (GALC) ■ GALC...
newborn_screen_follow-up_for_krabbe_disease_galactocerebrosidase_and_psychosine.pdf
© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 10/2024 Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase and Psychosine Newborn screening for infantile/late infantile Krabbe disease ■...
Cytogenetic Testing for Pediatric Patients With Hematologic Malignancies - Insights
In this month's "Hot Topic," Patricia Greipp, D.O., discusses fluorescence in situ hybridization, or FISH testing, particularly related to pediatric patients with hematologic malignancies.