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Test ID 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

Genetics Test Information

This test includes next-generation sequencing (NGS) and supplemental Sanger sequencing to evaluate for variants in the ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2 genes. Additionally, NGS is used to test for the presence of large deletions and duplications in a subset of genes.

 

Prior Authorization is available for this assay; see Special Instructions.

Highlights

This test uses next-generation sequencing with copy number variation analysis to test for variants in the ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2 genes.

 

This test may aid in the diagnosis of Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysm and dissection (TAAD), or a related disorder.

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing Followed by qPCR and/or Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

Reporting Name

Marfan and Related Genetic Panel

Specimen Type

Varies


Advisory Information


Targeted testing for familial variants (also called site-specific or known mutation testing) is available for the genes on this panel. See:

-KVAR1 / Known Variant Analysis-1 Variant, Varies

-KVAR2 / Known Variant Analysis-2 Variants, Varies

-KVAR3 / Known Variant Analysis-3+ Variants, Varies

 

Call 800-533-1710 to confirm the appropriate test for targeted testing.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Necessary Information


1. Marfan and Related Disorders Patient Information (T636) is required, see Special Instructions. Testing may proceed without the patient information however it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to complete the form and send it with the specimen.

2. 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 Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Wednesday; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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.

Prior Authorization

Insurance preauthorization is available for this testing; forms are available in Special Instructions.

 

Patient financial assistance may be available to those who qualify. Patients who receive a bill from Mayo Clinic Laboratories will receive information on eligibility and how to apply.

NY State Approved

Yes

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

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.