[Date]
[Insurance Company]
[Address 1]
[Address 2]
[City State Zip]
Re: [Patient Name]
Insurance ID: [ID #]
DOB: XX/XX/XXXX
To whom it may concern,
I am writing on behalf of my patient to recommend DNA diagnostic testing for Marfan Syndrome (MFS).
MFS is an autosomal dominant multisystem disorder that is characterized by variable clinical findings
that progress with age in one or more of the following areas:
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Vascular: aortic root dilatation and/or dissections, mitral valve prolapse
Skeletal: scoliosis, pectus carinatum/excavatum, wrist and/or thumb sign, hindfoot deformity,
acetabular protrusion, reduced upper/lower segment ratio and increased arm/height ratio
Craniofacial: characteristic facial features
Cutaneous: skin striae
Ocular: ectopia lentis, myopia
Other: dural ectasia, pneumothorax
Individuals with MFS are at high risk of aortic aneurysm, dissection or rupture, which may be lifethreatening.
The diagnosis of MFS is based on characteristic clinical findings in the proband and family members, as
well as molecular genetic testing of FBN1, the only gene known to be associated with MFS. Due to the
highly variable clinical presentation, genetic testing is important in establishing a timely diagnosis. This
allows for early intervention, disease management, life-style changes and tailored genetic counseling.
This patient is suspicious for MFS based on [describe symptomatology] and/or family history [describe].
If a germline mutation is identified in this patient, his/her recommended screening and medical
management will be significantly altered.
Please note that this test is performed for clinical management in a laboratory that is CLIA approved for
high complexity testing.
Authorization should be obtained for:
Test name: [Test name]
Facility: ARUP Laboratories
CPT codes: [CPT codes]
Diagnosis code: [Diagnosis code]
Thank you for your time and attention to this matter.
Sincerely,
[Name of Ordering Physician]
References:
Keane MG and Pyeritz RE. Medical Management of Marfan Syndrome. Circulation. 2008; 117:28022813.
Maron BJ, Moller JH, Seidman CE, et al. Impact of laboratory molecular diagnosis on contemporary
diagnostic criteria for genetically transmitted cardiovascular diseases: Hypertrophic cardiomyopathy,
long-QT syndrome, and Marfan syndrome. A statement for healthcare professionals from the Councils on
Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart
Association. Circulation. 1998;98:1460-1471.
Maron BJ, Ackerman MJ, Nishimura RA, et al Task Force 4: HCM and other cardiomyopathies, mitral
valve prolapse, myocarditis, and Marfan syndrome. J. Am Coll Cardiol. 2005;45:1340-5.