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HelpTest ID: CAORG Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies
Ordering Guidance
Upon request and after initial testing is complete, WESPR / Panel to Whole Exome Sequencing Reflex Test, Varies may be added to this test. To obtain more information about this option or add WESPR testing, call 800-533-1710.
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. To modify this panel via CGPH, use the Cardiovascular/Connective Tissue/Dyslipidemia/Cerebrovascular/Primary Ciliary Dyskinesia disease state for step 1 on the Custom Gene Ordering Tool.
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
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 hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Whole blood collected postnatal from an umbilical cord is also acceptable. See Additional Information
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
3. For postnatal umbilical cord whole blood specimens, maternal cell contamination studies are recommended to ensure test results reflect that of the patient tested. A maternal blood specimen is required to complete maternal cell contamination studies. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on both the cord blood and maternal blood specimens under separate order numbers.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies:
DNA Saliva Kit High Yield (T1007)
Saliva Swab Collection Kit (T786)
Container/Tube:
Preferred: High-yield DNA saliva kit
Acceptable: Saliva swab
Specimen Volume: 1 Tube if using T1007 or 2 swabs if using T786
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional Information: Saliva specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
Specimen Type: Extracted DNA
Container/Tube:
Preferred: Screw Cap Micro Tube, 2 mL with skirted conical base
Acceptable: Matrix tube, 1 mL
Collection Instructions:
1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated
Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.
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.
Useful For
Establishing a diagnosis for a variety of hereditary conditions involving aortic disease or overlapping clinical presentations including Marfan syndrome, Loeys-Dietz syndrome, multiple forms of Ehlers-Danlos syndrome, heritable thoracic aortic disease/aortopathy, and others
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
Comprehensive Aortopathy Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Clinical Information
Inherited forms of aortic disease, or aortopathies, may be associated with isolated thoracic aortic aneurysms and dissections or conditions with multi-system involvement. This gene panel includes genes for multiple conditions that may have aortopathy as a feature, including Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, arterial tortuosity syndrome, and heritable thoracic aortic disease (also known as familial thoracic aortic aneurysm/dissection: FTAAD). Other heritable conditions with overlapping clinical presentations are also covered by this panel. Confirming a genetic diagnosis in the setting of aortopathy may aid in differentiating the genetic etiology of complex or ambiguous clinical presentations, treatment decisions, and genetic counseling.
Marfan syndrome (MFS) is an autosomal dominant genetic disorder affecting the connective tissue that occurs in approximately 1 to 2 per 10,000 individuals. It is characterized by the presence of skeletal, ocular, and cardiovascular manifestations and is caused by variants in the FBN1 gene. Skeletal findings may include tall stature, chest wall deformity, scoliosis, and joint hypermobility. Lens dislocation (ectopia lentis) is the cardinal ocular feature with mitral valve prolapse and aortic root dilatation/dissection the main cardiovascular features.(1)
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disease with significant overlap with Marfan syndrome but may include involvement of other organ systems and is primarily caused by variants in TGFBR1 and TGFBR2.(2,3) Features of LDS that are not typical of MFS include craniofacial and neurodevelopmental abnormalities and arterial tortuosity with increased risk for aneurysm and dissection throughout the arterial tree. Variants in the SMAD3 gene have been reported in families with an LDS-like phenotype with arterial aneurysms and tortuosity and early onset osteoarthritis. Variants in the TGFB3 gene have also been reported in families with an LDS-like phenotype, although these individuals tended to not have arterial tortuosity.
Heritable thoracic aortic disease (FTAAD) is a genetic condition primarily involving dilatation and dissection of the thoracic aorta but may also include aneurysm and dissection of other arteries. This condition has a highly variable age of onset and presentation and may involve additional features such as congenital heart defects and other features of connective tissue disease or smooth muscle abnormalities depending on the causative gene. The gene most commonly involved in FTAAD is ACTA2.(4,5)
Vascular Ehlers-Danlos syndrome (also known as vEDS or EDS IV) is an autosomal dominant connective tissue disease caused by variants in the COL3A1 gene. vEDS may present with characteristic facial features, thin, translucent skin, easy bruising, and arterial, intestinal, and uterine fragility. Arterial rupture may be preceded by aneurysm or dissection or may occur spontaneously.(6) Classic Ehlers-Danlos syndrome types I and II (also known as cEDS) are caused by variants in the COL5A1 and COL5A2 genes. Aortic root dilation and, more rarely, spontaneous vessel rupture have been reported in cEDS.(7)
Other genes included on this panel cause conditions with clinical overlap with those above. Examples include genes associated with rare, autosomal recessive forms of Ehlers-Danlos syndrome, the FLNA gene associated with FLNA deficiency, the FBN2 gene associated with congenital contractural arachnodactyly, the CBS gene associated with homocystinuria, the SLC2A10 gene associated with autosomal recessive arterial tortuosity syndrome, and the NOTCH1 gene associated with NOTCH1-related AOS spectrum disorder.(8-12)
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;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;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 ;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 May 4, 2023. January 20, 2026. 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;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;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 February 1, 2024. Accessed January 20, 2026. 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 30, 2021. January 20, 2026. 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 July 14, 2022. January 20, 2026. Available at www.ncbi.nlm.nih.gov/books/NBK1386/
10. Sacharow SJ, Picker JD, Levy HL. Homocystinuria due to cystathionine beta-synthase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated September 25, 2025. Accessed January 20, 2026. 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;38(4):452-457
12. Clinical Genome Resource: Gene-Disease Validity Classification Summary for NOTCH1-related AOS spectrum disorder. Accessed December 23, 2025. Available at https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_419c6123-9678-4c4c-bbb7-6e9f463f4515?page=1&size=25&search=
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;17(5):405-424
Day(s) Performed
Varies
Report Available
21 to 28 daysTest 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 |
Special Instructions
- Informed Consent for Genetic Testing
- Informed Consent for Genetic Testing (Spanish)
- Connective Tissue/Cerebrovascular Disease Genetic Testing Patient Information
- Targeted Genes and Methodology Details for Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel
- Comprehensive Marfan, Loeys-Dietz, Ehlers- Danlos, and Aortopathy Gene Panel (CAORG) Prior Authorization Ordering Instructions
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| MATCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm
For cord blood specimens that have an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.
multi-gene panel