[DATE]
Patient: [PATIENT_FIRST_NAME] [PATIENT_LAST_NAME]
Insurance Company: [INSURANCE_COMPANY_NAME]
Subscriber Name: [POLICY_HOLDER_NAME]
Policy #: [POLICY_NUMBER]
Dear Claims Specialist,
I am writing this letter on behalf of my patient [PATIENT_FIRST_NAME]
[PATIENT_LAST_NAME] to request coverage for genetic testing for Marfan syndrome/LoeysDietz syndrome offered through GeneDx, a high complexity CLIA certified laboratory located in
Gaithersburg, Maryland.
Information on patient’s Condition:
[PATIENT_FIRST_NAME] is a [PATIENT_AGE] year-old [PATIENT_GENDER] suspected
to have Marfan syndrome/Loeys-Dietz syndrome. (IF APPLICABLE: [HIS_HER] family history
is [NOT] notable for sudden cardiac death.) [PATIENT_FIRST_NAME]’s clinical symptoms and
results of the routine diagnostic tests suggest a diagnosis of Marfan syndrome/Loeys-Dietz
syndrome. However, the only way to confirm this diagnosis is to perform genetic testing on this
patient. Results from this genetic test will have a direct impact on this patient’s treatment
and management.
Disease specific [Choose the appropriate one]:
Marfan syndrome is a systemic condition of the connective tissue. The four major diagnostic
findings include dilatation or dissection of the aorta at the level of the sinuses of Valsalva, ectopia
lentis, dural ectasia, and four of eight specific skeletal features. Identifying a gene mutation in
FBN1 is the only way to definitively establish the etiology of this patient’s symptoms, as features of
Marfan can be found in the general population or mimicked by other hereditary connective tissue
conditions such as the vascular type of Ehlers-Danlos syndrome and familial thoracic aortic
aneurysm and dissection (familial TAAD). It is extremely important to know if this patient’s
symptoms are Marfan syndrome associated, as the other possible conditions are treated and
managed very differently. A positive genetic test result would provide a definitive diagnosis of
Marfan syndrome and would ensure this patient is being treated appropriately.
Loeys-Dietz syndrome (LDS) is a systemic connective tissue disorder caused by mutations in the
TGFBR1 or TGFBR2 genes. The skeletal features of Loeys-Dietz syndrome, such as joint laxity,
arachnodactyly, pectus deformity, and scoliosis, can overlap with the Marfan phenotype, however
most individuals with LDS have features in other organ systems not typical of Marfan syndrome.
Patients with Loeys-Dietz syndrome can exhibit various craniofacial, neurodevelopmental, skeletal
and skin abnormalties, however features specific to LDS include hypertelorism, cleft palate or bifid
uvula, and arterial or aortic aneurysms and aterial tortuosity. It is extremely important to know if
this patient’s symptoms are Loeys-Dietz syndrome associated, as the other possible conditions
which have overlapping phenotypes are treated and managed very differently. A positive genetic
test result would provide a definitive diagnosis of Loeys-Dietz syndrome and would ensure this
patient is being treated appropriately.
Family History:
Marfan syndrome/Loeys-Dietz syndrome is inherited in an autosomal dominant manner.
Therefore, genetic testing results not only have implications for the patient, but also [HIS_HER]
relatives. If a genetic mutation is identified in [PATIENT_FIRST_NAME] we will be able to
assess the risk for [HIS_HER] family members who may also have the same condition and thus be
able to provide them with the appropriate medical management and counseling.
Knowledge of this patient's genetic information is important for me to accurately assess
his risk for aortic dissection and will guide my recommendations for his care. The revised
2010 Ghent nosology for the Marfan syndrome stated, “In order to avoid persistent
ambiguity even under the proposed criteria, molecular testing should be strongly
considered because it influences the clinical management.”1 I am specifying GeneDx
because this laboratory has highly sensitive and cost-effective test for Marfan syndrome/
Loeys-Dietz syndrome.
Thank you for your review and consideration. I hope you will support this request for genetic
testing coverage for [PATIENT_FIRST_NAME] [PATIENT_LAST_NAME]. If you have
questions, or if I can be of further assistance, please do not hesitate to call me at
[PHYSICIAN_PHONE_NUMBER].
Sincerely,
[PHYSICIAN_FIRST_NAME] [PHYSICIAN_LAST_NAME], MD
cc: [PATIENT_FIRST_NAME] [PATIENT_LAST_NAME]
1.
Loeys BL, Dietz HC, Braverman AC, Bert L, Callewaert, Julie De Backer, Richard B Devereux, Yvonne HilhorstHofstee, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. 2010. The
revised Ghent nosology for the Marfan syndrome.J Med Genet 47:476-485.