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Test Code MFRGP Marfan Syndrome and Related Disorders Multi-Gene Panel, Blood

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

Reporting Name

Marfan and Related Genetic Panel, B

Specimen Type

Whole Blood EDTA


Necessary Information


Include physician name and phone number with specimen.



Specimen Required


Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send specimen in original tube.

Additional Information: Prior Authorization is available for this test. Submit the required form with the specimen.


Specimen Minimum Volume

0.6 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Ambient (preferred)
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Wednesday; Varies

Performing Laboratory

Mayo Medical Laboratories in Rochester

CPT Code Information

81410

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MFRGP Marfan and Related Genetic Panel, B In Process

 

Result ID Test Result Name Result LOINC Value
36650 Gene(s) Evaluated 48018-6
36651 Result Summary 50397-9
36657 Result Details No LOINC Needed
36658 Interpretation 69047-9
36962 Additional Information 48767-8
36963 Method 49549-9
36964 Disclaimer 62364-5
36692 Reviewed by No LOINC Needed

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 Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

Forms

1. Marfan and Related Disorders Patient Information (T636) in Special Instructions

2. 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.

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 (http://www.mayomedicallaboratories.com/it-mmfiles/cardiovascular-request-form.pdf).