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Familial hypercholesterolemia
Clinical Genetic Test
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offered by
Health in Code
View lab's test page
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GTR Test Accession: Help GTR000503244.2
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2015-03-31
View version history
Last annual review date for the lab: 2015-03-06 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Hypercholesterolemia, familial, 1
Genes (2): Help
APOB (2p24.1); LDLR (19p13.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Clinical features consistent with Familial hypercholesterolemia
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Health in Code
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate
Test Order Code: Help
PHF
View other test codes
Contact Policy: Help
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: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Data Storage and Backup
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Clinical features consistent with Familial hypercholesterolemia
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
1-Previously reported or identified in our lab 2-Reported in controls (from our lab, dbSNP, ENSEMBL, NHLBI GO ESP) 3-Functional studies 4-Variant affecting the same domain/close variants 5-Bioinformatics tools

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. We use to inform about any relevant update by e-mail. The update is always includes a new report made for a carrier relative.
Recommended fields not provided:
Clinical validity, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity >95%, Specificity >95%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
Polyphen-2, SIFT, PMUT, SSF, HSF, MaxEnt, NNSplice

Laboratory's policy on reporting novel variations Help
We inform about them in our test report.
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: Help
Category: Not Applicable
Additional Information
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.