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6q24 MS-MLPA for transient neonatal diabetes
Clinical Genetic Test
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offered by
Genetic Services Laboratory
View lab's test page
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GTR Test Accession: Help GTR000515076.4
CAP
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Last updated in GTR: 2020-08-11
View version history
Last annual review date for the lab: 2023-07-18 LinkOut
At a Glance
Test purpose: Help
Screening; Pre-symptomatic; Diagnosis; ...
Conditions (1): Help
Transitory neonatal diabetes mellitus
Genes (2): Help
HYMAI (6q24.2), PLAGL1 (6q24.2)
Methods (1): Help
Molecular Genetics - Methylation analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity: Help
The most common cause of transient neonatal diabetes is overexpression …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genetic Services Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Cell culture
  • Fibroblasts
  • Saliva
  • Buccal swab
  • Cord blood
  • Fetal blood
  • Fresh tissue
  • Product of conception (POC)
  • Peripheral (whole) blood
  • Chorionic villi
  • Amniocytes
  • Frozen tissue
  • Amniotic fluid
  • View specimen requirements
Who can order: Help
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Health Care Provider
  • Genetic Counselor
  • Registered Nurse
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
•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
Test service: Help
Confirmation of research findings
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Custom Prenatal Testing
Informed consent required: Help
No
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening; Pre-symptomatic; Diagnosis; Mutation Confirmation; Monitoring
Clinical validity: Help
The most common cause of transient neonatal diabetes is overexpression of imprinted genes PLAGL1 and HYMAI at 6q24, due to either paternal uniparental disomy of chromosome 6 (UPD6), duplication of 6q24 on the paternally inherited allele, or hypomethylation of the maternally inherited allele. 6q24 Methylation-Specific MLPA can detect copy number … View more
View citations (1)
  • Transient neonatal diabetes, a disorder of imprinting. Temple IK, et al. J Med Genet. 2002;39(12):872-5. doi:10.1136/jmg.39.12.872. PMID: 12471198.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Research:
Is research allowed on the sample after clinical testing is complete? Help
http://dnatesting.uchicago.edu/research-consent-form
Recommended fields not provided:
Clinical utility, Target population, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Laboratory's policy on reporting novel variations Help
All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.