GTR Test Accession:
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GTR000529272.5
Last updated in GTR:
2021-01-08
View version history
GTR000529272.5,
last updated:
2021-01-08
GTR000529272.4,
last updated:
2021-01-05
GTR000529272.3,
last updated:
2020-01-13
GTR000529272.2,
last updated:
2019-01-11
GTR000529272.1,
registered in GTR:
2018-01-12
Last annual review date for the lab: 2021-01-11
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (14):
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Aortic valve disease 1;
Aortic aneurysm, familial thoracic 4;
Aortic aneurysm, familial thoracic 6
more...
Genes (22):
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Methods (2):
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Molecular Genetics - Deletion/duplication analysis: XHMM; ...
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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TAAD panel + COL5A1
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Fibroblasts
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Licensed Physician
Lab contact:
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Alessandra Maugeri, 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 Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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No
Test strategy:
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Targeted Next-Generation sequencing and CNV analysis
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: 14
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
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Total genes: 22
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 *
Deletion/duplication analysis
XHMM
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;
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
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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.