GTR Test Accession:
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GTR000591839.6
Last updated in GTR: 2023-07-20
View version history
GTR000591839.6, last updated: 2023-07-20
GTR000591839.5, last updated: 2023-06-19
GTR000591839.4, last updated: 2022-07-18
GTR000591839.3, last updated: 2021-09-22
GTR000591839.2, last updated: 2021-08-16
GTR000591839.1, last updated: 2020-09-14
Last annual review date for the lab: 2023-06-19
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (1):
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Hereditary disease
Human genome
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
PGnome is PreventionGenetics' whole genome sequencing (WGS) test. PGnome is …
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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- Cell culture
- Fetal blood
- Fibroblasts
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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How to Order:
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Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 7000, 7001, 8000, 8001
OrderCode: 7000, 7001, 8000, 8001
Test additional service:
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Custom Prenatal Testing
OrderCode: 990
OrderCode: 990
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Contact policy,
Test strategy
Conditions
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Total conditions: 1
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)
Other
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Target population:
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PGnome is PreventionGenetics' whole genome sequencing (WGS) test. PGnome is the ultimate germline DNA test because it covers the entire genome. Although initially the primary application of WGS will be diagnosis, there are other, very powerful applications as shown in the following list. Primary Applications of WGS: Diagnosis, Assessment of …
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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The PreventionGenetics protocol for interpreting sequence variants has been carefully developed over a period of 10 years. We are conservative in our interpretations. We do not label a variant as pathogenic or benign without conclusive evidence. Although we use a variety of software to assist us in interpretation, we rely … View more
The PreventionGenetics protocol for interpreting sequence variants has been carefully developed over a period of 10 years. We are conservative in our interpretations. We do not label a variant as pathogenic or benign without conclusive evidence. Although we use a variety of software to assist us in interpretation, we rely … View more
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. Please visit our website for details at https://www.preventiongenetics.com/forms.php for Targeted variant tests.
Yes. Please visit our website for details at https://www.preventiongenetics.com/forms.php for Targeted variant tests.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. Please visit our website for details http://preventiongenetics.com/
Yes. Please visit our website for details http://preventiongenetics.com/
Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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PGnome uses Illumina short-read next generation sequencing (NGS) technologies. As required, genomic DNA is extracted from patient specimens. Patient DNA is sheared, adaptors are ligated to the fragment ends, and the fragments are sequenced on the NovaSeq 6000 using 2x150 bp paired-end reads. The following quality control metrics are generally …
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Test Comments:
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Whole genome sequencing
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Genome sequencing is superior to exome sequencing because it covers portions of the genome like deep intronic regions that are not covered by exome sequencing and because it yields better detection of Structural Variants (defined as Copy Number Variants (CNVs) plus inversions, and translocations). In addition, genome sequencing provides more …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.
Laboratory's policy on reporting novel variations Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.
GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.
Laboratory's policy on reporting novel variations Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.
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:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.