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Test Code HYPBG Hypobetalipoproteinemia Gene Panel, Varies


Ordering Guidance


This gene panel contains genes in common with HCHLG / Hypercholesterolemia Gene Panel, Varies. These tests should not be ordered concurrently as they assist in diagnosing conflicting disorders. For low levels of cholesterol (hypocholesterolemia), order this test. For high levels of cholesterol (hypercholesterolemia), order HCHLG.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Necessary Information


Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Hereditary Dyslipidemia Patient Information

3. Hypobetalipoproteinemia Gene Panel (HYPBG) Prior Authorization Ordering Instructions

4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Hypobetalipoproteinemia Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

2. Shapiro MD and Feingold KR: Monogenic disorders causing hypobetalipoproteinemia. In: Feingold KR, Anawalt B, Boyce A, et al, eds. Endotext [Internet]. MDTest.com, Inc; 2000. Updated October 4. 2021. Accessed February 9, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK326744/

Day(s) Performed

Varies

Report Available

28 to 42 days

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. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81406

81407

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HYPBG Hypobetalipoproteinemia Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
617310 Test Description 62364-5
617311 Specimen 31208-2
617312 Source 31208-2
617313 Result Summary 50397-9
617314 Result 82939-0
617315 Interpretation 69047-9
617316 Additional Results 82939-0
617317 Resources 99622-3
617318 Additional Information 48767-8
617319 Method 85069-3
617320 Genes Analyzed 48018-6
617321 Disclaimer 62364-5
617322 Released By 18771-6