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HelpTest Code PMAOG Postmortem Aortopathy Gene Panel, Tissue
Ordering Guidance
This test is intended for use when whole blood is not available, and formalin-fixed, paraffin-embedded (FFPE) tissue is the only available specimen. If whole blood is available, consider either MFRGG / Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies or CAORG / Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies.
Targeted testing for familial variants (also called site-specific or known variants 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.
Specimen Required
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block
Additional Information: Testing will be attempted on blocks of any age but may be canceled if adequate DNA concentration cannot be obtained.
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)
-Informed Consent for Genetic Testing for Deceased Individuals (T782)
2. Connective Tissue/Cerebrovascular Disease Genetic Testing Patient Information
Useful For
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic aneurysm and dissections, vascular Ehlers-Danlos syndrome, or a related condition
Identifying a disease-causing variant in the decedent, which may assist with risk assessment and predictive testing of at-risk family members
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS)
Reporting Name
Postmortem Aortopathy Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
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, Mirzaa, GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated May 4, 2023. Accessed August 30, 2023. 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, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1993-2023. Updated July 26, 2018. Accessed August 30, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1244/
8. Chen MH, Walsh CA. FLNA deficiency. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2002. Updated September 30, 2021. Accessed August 30, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1213/
9. Callewaert B. Congenital contractural arachnodactyly. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2001. Updated July 14, 2022. Accessed August 30, 2023. 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, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2004. Updated May 18, 2017. Accessed August 30, 2023. 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-familial thoracic aortic aneurysm and aortic dissection. ClinGen; 2023. Accessed August 30, 2023. 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;17(5):405-424
14. Fishman GI, Chugh SS, DiMarco JP, et al. Sudden cardiac death prediction and prevention: report from the National Heart, Lung and Blood Institute and Heart Rhythm Society Workshop. Circulation. 2010;122(22):2335-2348
15. Semsarian C, Ingles J. Molecular autopsy in victims of inherited arrhythmias. J Arrhythm. 2016;32(5):359-365
16. Stattin EL, Westin IM, Cederquist K, et al. Genetic screening in sudden cardiac death in the young can save future lives. Int J Legal Med. 2016;130(1):59-66
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming 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 |
|---|---|---|
| PMAOG | Postmortem Aortopathy Gene Panel | 106052-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 620569 | Test Description | 62364-5 |
| 620570 | Specimen | 31208-2 |
| 620571 | Source | 31208-2 |
| 620572 | Result Summary | 50397-9 |
| 620573 | Result | 82939-0 |
| 620574 | Interpretation | 69047-9 |
| 620575 | Additional Results | 82939-0 |
| 620576 | Resources | 99622-3 |
| 620577 | Additional Information | 48767-8 |
| 620578 | Method | 85069-3 |
| 620579 | Genes Analyzed | 82939-0 |
| 620580 | Disclaimer | 62364-5 |
| 620581 | Released By | 18771-6 |