Loeys-Dietz Syndrome (LDS)

[Insurance Company]
[Address 1]
[Address 2]
[City State Zip]
Re: [Patient Name]
Insurance ID: [ID #]
To whom it may concern,
I am writing on behalf of my patient to recommend DNA diagnostic testing for Loeys-Dietz Syndrome (LDS).
LDS is an autosomal dominant multisystem disorder that is characterized by clinical findings in one or more of
the following areas:
Vascular: generalized arterial tortuosity, cerebral, thoracic, and abdominal arterial aneurysms and/or
Skeletal: scoliosis, arachnodactyly, talipes equinovarus, joint laxity, pectus excavatum/carinatum
Craniofacial: hypertelorism, craniosynostosis, cleft palate or bifid uvula
Cutaneous: translucent, velvety skin, widened/poorly formed scars, and easy bruising
Individuals with LDS are at high risk of premature and aggressive arterial aneurysms and/or dissections.
Dissection can occur without marked arterial dilatation. Women with LDS are also at risk for catastrophic
complications of pregnancy.
The diagnosis of LDS is based on characteristic clinical findings in the proband and family members, as well as
molecular genetic testing of TGFBR1 and TGFBR2, the only two genes known to be associated with LDS.
Genetic testing is important to establish a timely diagnosis, allowing for early intervention, disease management,
and tailored genetic counseling. This patient is suspicious for LDS 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.
From www.aruplab.com
Revision 1
Created: 03/06/2013
[Name of Ordering Physician]
1. Kalra, VB, Gilbert JW, Malhotra A.(2011): Loeys-Dietz syndrome: cardiovascular, neurological and musculoskeletal imaging finding.
Pediat Radiol; 41(12):1495-1504.
2. Van Hemelrijk C, Renard M, and Loeys B. (2010): The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol; 25(6):
3. Sthener, c. et al. (2008): Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457
patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat; 29(11):E284-295.
4. Gutman G. et al. (2009): Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. Fetal Diagn Ther; 26(1):
From www.aruplab.com
Revision 1
Created: 03/06/2013