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Test Code CAORG Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy 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. 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. Connective Tissue/Cerebrovascular Disease Genetic Testing Patient Information

3. Comprehensive Aortopathy Gene Panel (CAORG) Prior Authorization Ordering Instructions

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

Method Name

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

Reporting Name

Comprehensive Aortopathy 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.(13) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Loeys BL, Dietz HC, Braverman AC, et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-485

2. Loeys BL, Schwarze U, Holm T, et al: Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24;355(8):788-798

3. Loeys BL, Chen J, Neptune ER, et al: A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005 Mar;37(3):275-281

4. 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 December 14, 2017. Accessed September 22, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1120/

5. Guo DC, Pannu H, Tran-Fadulu V, et al: Mutations in smooth muscle a-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 Dec;39(12):1488-1493

6. Pepin M, Schwarze U, Superti-Furga A, Byers PH: Clinical and genetic features of Ehlers-Danlos syndrome type IV, The vascular type. N Engl J Med. 2000 Mar 9;342(10):673-680

7. Malfait F, Wenstrup R, Paepe AD: Classic Ehlers-Danlos syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2007. Updated July 26, 2018. Accessed September 22, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1244/

8. Chen MH, Walsh CA: FLNA-related periventricular nodular heterotopia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2002. Updated September 17, 2015. Accessed September 22, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1213/

9. Callewaert B. Congenital contractural arachnodactyly. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated October 21, 2019. Accessed September 30, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1386/

10. Sacharow SJ, Picker JD, Levy HL: Homocystinuria caused by cystathionine beta-synthase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated May 18, 2017. Accessed September 30, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1524/

11. Coucke PJ, Willaert A, Wessels MW, et al: Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr;38(4):452-457

12. Clinical Genome Resource: Gene-Disease Validity Classification Summary for NOTCH1-familial thoracic aortic aneurysm and aortic dissection. ClinGen; 2016. Accessed July 14, 2022. Available at https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8269

13. 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

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

81410

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CAORG Comprehensive Aortopathy Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
617156 Test Description 62364-5
617157 Specimen 31208-2
617158 Source 31208-2
617159 Result Summary 50397-9
617160 Result 82939-0
617161 Interpretation 69047-9
617162 Additional Results 82939-0
617163 Resources 99622-3
617164 Additional Information 48767-8
617165 Method 85069-3
617166 Genes Analyzed 48018-6
617167 Disclaimer 62364-5
617168 Released By 18771-6