[INSERT_DATE]
RE:
Genetic Testing for Marfan Syndrome & Aortic Aneurysms Letter of Medical Necessity
Patient Name: [PATIENT_FULL_NAME]
DOB: [DATE_OF_BIRTH]
Subscriber/ID Number: [POLICY_NUMBER]
To Whom It May Concern:
I am writing on behalf of my patient to request authorization for the FAMILION Marfan Syndrome & Aortic
Aneurysms Large Deletions/Duplications genetic test: CPT codes [INSERT CPT CODES] with diagnosis
code(s) of [INSERT_ICD10_CODES].
I suspect my patient has a genetic disease that causes life-threatening aortic aneurysms, based on the following
medical history, signs and symptoms: [INSERT DETAILS, e.g., dilation or dissection of the thoracic aorta,
dissection of the thoracic aorta, features of Marfan syndrome or Loeys-Dietz syndrome, family member(s) with
TAAD, Marfan syndrome or Loeys-Dietz syndrome].
The FAMILION Marfan Syndrome/Aortic Aneurysms Large Deletion/Duplication Test analyzes the genes FBN1
and TGFBR2 for large deletions and deletions that may cause Marfan Syndrome or other aortic aneurysmsusceptibility disorders. Marfan syndrome and the Marfan-like syndrome called Loeys-Dietz syndrome
predispose patients to life-threatening thoracic aortic aneurysms and dissections (TAAD). In addition,
susceptibility for aortic aneurysms can be inherited without any syndromic features and is called familial
TAAD.1,2 Marfan syndrome is estimated to affect approximately 1 in 5,000 people, while the prevalence of
Loeys-Dietz syndrome and familial TAAD is unknown. Clinical investigations may not determine the underlying
cause of aortic aneurysms. Diseases associated with aortic aneurysms can differ greatly in their clinical course,
outcomes, and management. 1-3 Genetic testing can help to establish an accurate diagnosis.1-3 This genetic test is a
critical component of a comprehensive diagnostic workup and the results will guide treatment decisionmaking, including whether my patient may require surgical intervention. The test results are also important
for this patient’s family members: if a mutation is identified, then relatives at risk for developing an aortic
aneurysm can be accurately identified through genetic testing regardless of whether they are experiencing any
symptoms and earlier treatment to avoid complications may be enabled.
The FAMILION Marfan/TAAD test is an accurate test for patients suspected to have a genetic disease that
predisposes to thoracic aortic aneurysms and dissections (including Marfan syndrome, Loeys-Dietz syndrome,
and familial TAAD), and is performed in a CLIA-certified laboratory that meets all applicable state and federal
guidelines. The results of this test are medically necessary to guide treatment of this patient. Thank you for
your time and consideration of my request. Please contact me if you wish to discuss my patient’s treatment plan
or require additional information.
Respectfully,
[INSERT_PHYSCIAN_NAME,
ADDRESS,
AND_PHONE_NUMBER]
References: 1) Milewicz DM, Guo DC, Tran-Fadulu V, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth
muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet. 2008;9:283-302 2) Van Hemelrijka C, Renardb M, Loeys B. The
Loeys–Dietz syndrome: an update for the clinician. Current Opinion in Cardiology 2010,25:546-551. 3) Loeys BL, Dietz HC, Braverman
AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476-85.