Test Code MISC2MAYOFHRGP Familial Hypercholesterolemia and Related Disorders Multi-Gene Panel, Next-Generation Sequencing, Varies
Advisory Information
-KVAR1 / Known Variant Analysis-1 Variant, Varies
-KVAR2 / Known Variant Analysis-2 Variants, Varies
-KVAR3 / Known Variant Analysis-3+ Variants, Varies
Call 800-533-1710 to confirm the appropriate test for targeted testing.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
1. Familial/Autosomal Dominant Hypercholesterolemia Patient Information is required, see Special Instructions. Testing may proceed without the patient information however it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to complete the form and send it with the specimen.
2. Include physician name and phone number with specimen.
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: DNA
Container/Tube: 2 mL screw top tube
Specimen Volume: 100 mcL (microliters)
Collection Instructions:
1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.
Secondary ID
65748Useful For
Confirming a clinical diagnosis of familial hypercholesterolemia or sitosterolemia
Cascade screening of at-risk family members and early diagnosis, treatment, and dietary modifications
Ascertaining carrier status of family members of individuals diagnosed with familial hypercholesterolemia for genetic counseling purposes
Special Instructions
Method Name
Custom Sequence Capture and Targeted Next-Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing or qPCR
Reporting Name
Hypercholesterolemia Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability. |
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Monday; Varies
Performing Laboratory

Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81479
81406 x 2
81407
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
FHRGP | Hypercholesterolemia Gene Panel | In Process |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
601697 | Gene(s) Evaluated | 48018-6 |
601708 | Result Summary | 50397-9 |
601709 | Result Details | 82939-0 |
601710 | Interpretation | 69047-9 |
601711 | Additional Information | 48767-8 |
601712 | Method | 49549-9 |
601713 | Disclaimer | 62364-5 |
601714 | Reviewed By | 18771-6 |