Familial Hypercholesterolemia, Autosomal Dominant, 3 (PCSK9)
GTR Test Accession: Help GTR000327520.2
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2013-12-17
Last annual review date for the lab: 2023-12-11 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Hypercholesterolemia, autosomal dominant, 3; Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
Genes (1): Help
PCSK9 (1p32.3)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
MVZ Dr. Eberhard & Partner Dortmund
View lab's website
View lab's test page
Test short name: Help
PCSK9 FH
Specimen Source: Help
Test Order Code: Help
FH Typ 3, FH3, PCSK9
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
EDTA-blood, DNA, other peripheral whole blood samples (not frozen). Other specimen after consultation.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
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:
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
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
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Identified variants are documented in-house and are comprehensively evaluated using mutation databases and literature by scientific and medical directors.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Platform:
None/not applicable
Test Comments: Help
Biochemical testing is also available.
Testing for other types of hypercholesterolemia also available (APOB, LDLR).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
A collection of bioinformatic tools.

Laboratory's policy on reporting novel variations Help
Novel variations are evaluated and reported if suspected relevant.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.