Order Code MFRGP Marfan Syndrome and Related Disorders Multi-Gene Panel, Varies
Useful For
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic aneurysm and dissections, or a related disorder
Second-tier testing for patients in whom previous targeted gene variant analyses for specific Marfan and related genes were negative
Establishing a diagnosis of a Marfan or a related disorder in some cases, allowing for appropriate management and surveillance for aneurysms and other disease features based on the gene involved
Identifying variants within genes known to be associated with increased risk for aneurysms and other disease features allowing for predictive testing of at-risk family members
Special Instructions
Reporting Name
Marfan and Related Genetic PanelSpecimen Type
VariesAdvisory Information
Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel; see KVAR1 / Known Variant Analysis-1 Variant, KVAR2 / Known Variant Analysis-2 Variants, or KVAR3 / Known Variant Analysis-3+ Variants. Call 800-533-1710 to confirm the appropriate test for targeted testing if testing for a gene not included on this panel, or if testing for more than 5 variants is needed.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Include physician name and phone number with specimen.
Specimen Required
Prior Authorization is available for this test. Submit the required form with the specimen.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days
Specimen Type: DNA
Container/Tube: 2 mL screw top tube
Specimen Volume: 100 mcL (microliters)
Collection Instructions:
1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated
Specimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time |
---|---|---|
Varies | Varies |
Reject Due To
Hemolysis |
NA |
Lipemia |
NA |
Icterus |
NA |
Other |
NA |
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Wednesday; Varies
Performing Laboratory

CPT Code Information
81410
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
MFRGP | Marfan and Related Genetic Panel | In Process |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
36650 | Gene(s) Evaluated | 36908-2 |
36651 | Result Summary | 50397-9 |
36657 | Result Details | 82939-0 |
36658 | Interpretation | 69047-9 |
36962 | Additional Information | 48767-8 |
36963 | Method | 49549-9 |
36964 | Disclaimer | 62364-5 |
36692 | Reviewed by | 18771-6 |
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.Method Name
Custom Sequence Capture and Targeted Next-Generation Sequencing Followed by qPCR and/or Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing
Forms
1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
2. Marfan and Related Disorders Patient Information (T636) in Special Instructions
3. Marfan Syndrome and Related Disorders Multi-Gene Panel Prior Authorization Ordering Instructions in Special Instructions
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen.