GTR Test Accession:
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GTR000529386.3
Last updated in GTR: 2021-01-10
View version history
GTR000529386.3, last updated: 2021-01-10
GTR000529386.2, last updated: 2019-01-11
GTR000529386.1, last updated: 2018-01-12
Last annual review date for the lab: 2021-01-11
Past due
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (10):
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Neurodegeneration with brain iron accumulation 6;
Hemosiderosis, systemic, due to aceruloplasminemia;
Hereditary spastic paraplegia 35
more...
Genes (10):
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Methods (2):
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Molecular Genetics - Mutation scanning 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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LONA-NBIA
Specimen Source:
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- Cell culture
- Fibroblasts
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Licensed Physician
Lab contact:
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Resie Vervenne, PhD, Staff
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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Using our website
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Confirmation of research findings
Custom Sequence Analysis
Test additional service:
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Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Test strategy:
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Targeted Next-Generation sequencing
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code
Conditions
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Total conditions: 10
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
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Total genes: 10
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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According CMGS guidelines
According CMGS guidelines
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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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greater than 99 percent
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
VUS:
Software used to interpret novel variations
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Alamut
Laboratory's policy on reporting novel variations Help
According CMGS guidelines
Alamut
Laboratory's policy on reporting novel variations Help
According CMGS guidelines
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:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular 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.