Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000560361.4
CAP
Last updated in GTR: 2023-06-30
View version history
GTR000560361.4, last updated: 2023-06-30
GTR000560361.3, last updated: 2022-07-12
GTR000560361.2, last updated: 2021-07-13
GTR000560361.1, last updated: 2018-07-25
Last annual review date for the lab: 2023-07-07
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic
Conditions (1):
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Familial hypercholesterolemia
Genes (3):
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APOB (2p24.1), LDLR (19p13.2), PCSK9 (1p32.3)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The LDLR, APOB, and PCSK9 genes are associated with familial …
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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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
- Licensed Physician
Test Order Code:
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94878
CPT codes:
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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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Not available for California or Nevada patient testing.
Order URL
Order URL
Informed consent required:
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Based on applicable state law
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,
Test strategy,
Test development
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 3
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
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
Target population:
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The LDLR, APOB, and PCSK9 genes are associated with familial hypercholesterolemia. When a patient has a relative who carries at least one pathogenic variant in a gene associated with FH, single site testing may be appropriate. This test determines the presence or absence of familial variant(s). Of note, a copy …
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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The laboratory follows ACMG variant classification protocols
The laboratory follows ACMG variant classification protocols
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. Quest Diagnostic’s Family Insight Program allows for segregation analysis, or determining whether the VUS is tracking with the disease in the family. By gathering clinical and family history information on your patient, we are able to identify appropriate family members to offer testing for the VUS identified in your patient. … View more
Yes. Quest Diagnostic’s Family Insight Program allows for segregation analysis, or determining whether the VUS is tracking with the disease in the family. By gathering clinical and family history information on your patient, we are able to identify appropriate family members to offer testing for the VUS identified in your patient. … View more
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. Inquiry by the ordering provider regarding potential changes to the classification of the variant is strongly recommended prior to making any clinical decision. If a variant is reclassified and this has clinical implications, Quest Diagnostics will endeavor to contact the ordering provider. For questions regarding variant classification updates, please call … View more
Yes. Inquiry by the ordering provider regarding potential changes to the classification of the variant is strongly recommended prior to making any clinical decision. If a variant is reclassified and this has clinical implications, Quest Diagnostics will endeavor to contact the ordering provider. For questions regarding variant classification updates, please call … View more
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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Gene dosage is assessed by bioinformatic analysis of sequencing reads and confirmed as necessary by a custom targeted microarray.
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, specificity, and accuracy are around 99%
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
VUS:
Laboratory's policy on reporting novel variations
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Novel variations are reported
Novel variations are reported
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:
Practice guidelines:
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.