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Test Code MFRGG Marfan, Loeys-Dietz, 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


Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 30 genes associated with Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, hereditary aortopathies, and related phenotypes: ACTA2, ADAMTS10, ADAMTS17, BGN, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, LOX, LTBP3, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, and TGFBR2. See Targeted Genes and Methodology Details for Marfan, Loeys-Dietz, and Aortopathy Gene Panel and Method Description for additional details.

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, hereditary aortopathies, and related phenotypes.

 

Prior Authorization is available for this assay.

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

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

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81410