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Test Code CVHBG Comprehensive Cerebrovascular Gene Panel, Varies


Ordering Guidance


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. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

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. Please 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. Connective Tissue/Cerebrovascular Disease Genetic Testing Patient Information

3. Cerebrovascular Gene Panel (CVHBG) Prior Authorization Ordering Instructions

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident

 

Establishing a diagnosis of a monogenic condition in which there is an increased risk for a cerebrovascular accident

Method Name

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

Reporting Name

Cerebrovascular 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.(10) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Tan RY, Markus HS. Monogenic causes of stroke: now and the future. J Neurol. 2015;262(12):2601-2616. doi:10.1007/s00415-015-7794-4

2. Zafar A, Quadri SA, Farooqui M, et al. Familial cerebral cavernous malformations. Stroke. 2019;50(5):1294-1301. doi:10.1161/STROKEAHA.118.022314

3. Byers PH. Vascular Ehlers-Danlos syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1999. Updated February 21, 2019. Accessed September 6, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1494/

4. Loeys BL, Dietz HC. Loeys-Dietz syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2008. Updated March 1, 2018. Accessed September 6, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1133/

5. Milewicz DM, Regalado E: Heritable thoracic aortic disease overview. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated May 4, 2023. Accessed September 6, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1120/

6. Callewaert B, De Paepe A, Coucke P: Arterial Tortuosity Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2014. Updated February 23, 2023. Accessed September 6, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK253404/

7. Litak J, Mazurek M, Kulesza B, et al. Cerebral small vessel disease. Int J Mol Sci. 2020;21(24):9729. doi:10.3390/ijms21249729

8. Shang S, Zhou D, Ya J, et al. Progress in moyamoya disease. Neurosurg Rev. 2020;43(2):371-382. doi:10.1007/s10143-018-0994-5

9. Aksentijevich I, Sampaio Moura N, Barron K. Adenosine deaminase 2 deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2019. Accessed September 6, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK544951

10. 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;17(5):405-424

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

81405 x5

81406 x3

81408

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CVHBG Cerebrovascular Gene Panel 55232-3

 

Result ID Test Result Name Result LOINC Value
617226 Test Description 62364-5
617227 Specimen 31208-2
617228 Source 31208-2
617229 Result Summary 50397-9
617230 Result 82939-0
617231 Interpretation 69047-9
617232 Additional Results 82939-0
617233 Resources 99622-3
617234 Additional Information 48767-8
617235 Method 85069-3
617236 Genes Analyzed 48018-6
617237 Disclaimer 62364-5
617238 Released By 18771-6