6q24 MS-MLPA for transient neonatal diabetes
GTR Test Accession: Help GTR000515076.4
CAP
DIGESTIVE SYSTEMENDOCRINOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2020-08-11
Last annual review date for the lab: 2023-07-18 Past due LinkOut
At a Glance
Diagnosis; Monitoring; Mutation Confirmation; ...
Transitory neonatal diabetes mellitus
Genes (2): Help
HYMAI (6q24.2); PLAGL1 (6q24.2)
Molecular Genetics - Methylation analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Not provided
The most common cause of transient neonatal diabetes is overexpression …
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
CPT codes: Help
**AMA CPT codes notice
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
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier 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:
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
Diagnosis; Monitoring; Mutation Confirmation; Pre-symptomatic; Screening
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:
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:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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