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Order 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

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

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

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide variants and deletions-insertions (delins) in 31 genes associated with Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, heritable thoracic aortic disease/aortopathy and related conditions with overlapping clinical presentation: ACTA2, ADAMTS10, ADAMTS17, AEBP1, BGN, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, LOX, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, and TGFBR2. See Method Description for additional details.

 

Identification of a disease-causing variant may assist with familial risk assessment, screening, and genetic counseling for Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and hereditary aortopathies.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS)

Reporting Name

Postmortem Aortopathy Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Method Description

Next-generation sequencing (NGS) is performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 20X. Sensitivity is estimated at above 99% for single nucleotide variants and above 94% for deletions-insertions (delins) less than 40 base pairs.

 

There may be regions of genes that cannot be effectively evaluated by sequencing as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. Confirmation of NGS results by Sanger sequencing is typically not performed for this test.(Unpublished Mayo method)

 

Genes analyzed: ACTA2, ADAMTS10, ADAMTS17, AEBP1, BGN, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, LOX, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, and TGFBR2

Day(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81410