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Test ID HHTGP Hereditary Hemorrhagic Telangiectasia Gene Panel, 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. Hereditary Hemorrhagic Telangiectasia (HHT) Gene Testing 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


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 Form (T724) with the specimen.

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT) or a related disorder


Second-tier testing for patients in whom previous targeted gene variant analyses for specific HHT genes were negative


Establishing a diagnosis of HHT and in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved


Identifying variants within genes known to be associated with HHT and allowing for predictive testing of at-risk family members

Genetics Test Information

This test includes next-generation sequencing as well as supplemental Sanger sequencing to evaluate the genes listed on this panel.


Additionally, NGS is used to test for the presence of large deletions and duplications in a subset of genes.


This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for variants in the ACVRL1, ENG, GDF2, RASA1, and SMAD4 genes.


Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Method Name

Custom Sequence Capture and Targeted Next Generation Sequencing followed by qPCR or Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

Reporting Name

Hereditary Hemorrhagic Telan Panel

Specimen Type


Specimen Minimum Volume

Whole blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

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


81406 x 2

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HHTGP Hereditary Hemorrhagic Telan Panel 35474-6


Result ID Test Result Name Result LOINC Value
601723 Gene(s) Evaluated 36908-2
601724 Result Summary 50397-9
601725 Result Details 82939-0
601726 Interpretation 69047-9
601727 Additional Information 48767-8
601728 Method 49549-9
601729 Disclaimer 62364-5
601730 Reviewed By 18771-6

NY State Approved