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Test Code FHRGP Familial Hypercholesterolemia and Related Disorders Multi-Gene Panel, Next-Generation Sequencing, Varies


Advisory Information


Targeted testing for familial variants (also called site-specific or known mutation testing) is available for the genes on this panel. See:

-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.

Useful 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

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 Panel

Specimen Type

Varies

Specimen 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

Wednesday; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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 36908-2
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