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Osteogenesis Imperfecta
Clinical Genetic Test
Help
offered by
Center for Human Genetics, Inc
View lab's test page
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GTR Test Accession: Help GTR000521190.2
MUSCULOSKELETALDYSMORPHOLOGYINHERITED DISEASE ... View more
Last updated in GTR: 2016-01-27
View version history
Last annual review date for the lab: 2021-11-30 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Osteogenesis imperfecta type I
Genes (2): Help
COL1A1 (17q21.33); COL1A2 (7q21.3)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Center for Human Genetics, Inc
View lab's website
View lab's test page
Test short name: Help
OI
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Chorionic villi
  • Cord blood
  • Fibroblasts
  • Isolated DNA
  • Peripheral (whole) blood
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
Order URL
Test additional service: Help
Custom Prenatal Testing
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, 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: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
ion torrent
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
Test Comments: Help
Deletion/duplication analysis by MLPA
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
greater than 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.