GTR Test Accession:
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GTR000524566.4
CAP
Last updated in GTR: 2019-07-29
View version history
GTR000524566.4, last updated: 2019-07-29
GTR000524566.3, last updated: 2018-07-27
GTR000524566.2, last updated: 2016-10-25
GTR000524566.1, last updated: 2015-10-24
Last annual review date for the lab: 2023-06-13
Past due
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At a Glance
Test purpose:
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Diagnosis;
Screening
Conditions (5):
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Neurodegeneration with brain iron accumulation; Dystonia 28, childhood-onset; Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; ...
Genes (19):
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ATP13A2 (1p36.13), C19orf12 (19q12), COASY (17q21.2), CP (3q24-25.1), DCAF17 (2q31.1), ...
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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NBIA
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Chorionic villi
- Cord blood
- Fetal blood
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- View specimen requirements
Who can order: Help
- Health Care Provider
Test Order Code:
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Lab contact:
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Contact Policy:
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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:
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Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy,
Test development
Conditions
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Total conditions: 5
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 19
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Screening
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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:
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Not provided
Additional Information
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
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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.