Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000570003.1
Last updated in GTR: 2020-01-13
View version history
GTR000570003.1, last updated: 2020-01-13
Last annual review date for the lab: 2020-01-23
Past due
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At a Glance
Test purpose:
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Diagnosis
Conditions (2):
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Hereditary disease; Genetic predisposition
Whole exome
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
Genotyping service, for the study of the coding sequence of …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Physician Assistant
Test Order Code:
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150731
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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To order a test it must be filled in the service request form (in PDF format) that can be downloaded directly from the website and edited. Once completed, it shall be send along with the sample to analyze. We process DNA or another biological samples (pre and postnatal, see details …
Order URL
Test service:
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Custom Sequence Analysis
Comment: contact our team
OrderCode: qSeqEasy
Data Storage and Backup
Genetic counseling
Comment: contact our team
Identity Testing
Result interpretation
Comment: contact our team
OrderCode: qSeqEasy
Data Storage and Backup
Genetic counseling
Comment: contact our team
Identity Testing
Result interpretation
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 2
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion | Associated condition |
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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
Target population:
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Genotyping service, for the study of the coding sequence of the +75 genes involved in the pathologies included in the different neonatal screening programs, to identify point mutations in coding regions, intron / exon boundaries anddeep intronic portions. The clinical service also includes the validation of mutations. by other molecular …
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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We interpret and report the pathogenic, benign and VUS variants according to the ngs guidelines and recommendations following the European/ American College of Medical Genetics.
We interpret and report the pathogenic, benign and VUS variants according to the ngs guidelines and recommendations following the European/ American College of Medical Genetics.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided. We re-evaluate prior interpretations while generating new reports. If a new syndrome or new genes have been described in the altered region of a previous report, we generate a new report and contact to the clinician.
Not provided. We re-evaluate prior interpretations while generating new reports. If a new syndrome or new genes have been described in the altered region of a previous report, we generate a new report and contact to the clinician.
Recommended fields not provided:
Clinical validity,
Clinical utility,
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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sensitivity >96%
specificity >99%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
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:
Practice guidelines:
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.