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Miller-Dieker syndrome
Clinical Genetic Test
Help
offered by
Genetics Laboratory
GTR Test Accession: Help GTR000509245.3
CAP
INHERITED DISEASEDYSMORPHOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2016-03-07
View version history
Last annual review date for the lab: 2023-02-08 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Miller Dieker syndrome
Chromosomal regions/ Mitochondria (1): Help
Chromosome 17
Methods (1): Help
Cytogenetics - FISH-metaphase: Metaphase FISH
Target population: Help
This test confirms a diagnosis of Miller-Dieker Syndrome which is …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genetics Laboratory
View lab's website
Test short name: Help
17p13.3
Manufacturer's name: Help
vysis
Specimen Source: Help
  • Cord blood
  • Fetal blood
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Lab contact: Help
Dongbin Xu, PhD, Staff
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
Samples should be submitted with the appropriate requisition form (Cytogenetics test request form). Samples are received Monday through Saturday. Blood should be collected in sodium heparin tubes.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Prenatal tesing
FISH Analysis
Drug Metabolism testing
Cytogenetics Analysis
Maternal Serum Screening
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
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, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
FISH-metaphase
Metaphase FISH
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
This test confirms a diagnosis of Miller-Dieker Syndrome which is characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. ILS is characterized by lissencephaly and its direct sequelae: developmental delay, intellectual disability, and seizures. [from GeneReviews]
View citations (1)
  • OMIM 123450
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical validity meets CAP requirements. Both sensitivity and specifity for the probe set > 95%. More information available upon request.
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
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: FDA exercises enforcement discretion
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.