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GTR Home > Tests > Widemann-steiner syndrome testing (KMT2A)

Overview

Test name

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Widemann-steiner syndrome testing (KMT2A)

Purpose of the test

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This is a clinical test intended for Help: Mutation Confirmation, Diagnosis, Risk Assessment, Screening, Monitoring, Pre-symptomatic

Condition

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How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Chorionic villi
Fetal blood
Saliva
Product of conception (POC)
Peripheral (whole) blood
Amniocytes
Frozen tissue
Amniotic fluid
Fibroblasts
Cell culture
Cord blood
Buccal swab
Fresh tissue

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations

Clinical validity

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Jones et al. (2012) identified mutations in MLL [OMIM#159555] in five out of six patients with clinical features consistent with Wiedemann-Steiner syndrome. All mutations were predicted to result in protein truncation. MLL encodes for a histone methyltransferase that regulates chromatin-mediated transcription.

Citations

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.