NADF - Overview: Newborn Aneuploidy Detection, FISH, Blood
Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens
C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...
Detecting Mycoplasma genitalium in cases of suspected infection This test is not intended for use in medico-legal applications.
CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
PSY - Overview: Psychosine, Blood Spot
Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...
PADF - Overview: Prenatal Aneuploidy Detection, FISH
Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in prenatal specimens
Detection of high-risk (HR) genotypes associated with the development of cervical cancer An aid in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18, if present...
Human papillomavirus (HPV) screening for average-risk, asymptomatic individuals who are eligible for primary HPV testing, have barriers to a speculum exam for a clinician-collected cervical sample for screening, and who are able to...
Detection of high-risk (HR) genotypes associated with the development of cervical cancer Aids in triaging women with abnormal Pap smear results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results of...
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...
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.