BMPR2-related PAH - ARUP Laboratories

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[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 pulmonary arterial hypertension
(PAH). PAH is defined as a mean pulmonary artery pressure of greater than 25 mmHg at rest or greater than 30
mmHg during exercise. It is caused by widespread occlusion and destruction of the pulmonary arteries, which
leads to right ventricular hypertrophy and eventual heart failure. Symptoms include shortness of breath, fatigue,
syncope, chest pain, palpitation, and edema.
PAH is an autosomal dominant condition caused by mutations in the BMPR2 gene in 70 percent of patients with
familial PAH and 15 percent with idiopathic PAH. Genetic testing of the BMPR2 gene can be used to confirm a
diagnosis in symptomatic individuals as well as in asymptomatic, at-risk family members. This allows for early
intervention, disease management, life-style changes and tailored genetic counseling.
Recent advances in treatment options have improved the median survival of patients with PAH. For this reason, it
is recommended that patients receive screening/monitoring at a center specializing in PAH diagnosis and therapy
once a diagnosis has been established.
This patient is suspicious for BMPR2-related PAH 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,
From www.aruplab.com
Revision 1
Created: xx/xx/xxxx
[Name of Ordering Physician]
References:
American College of Cardiology Foundation and the American Heart Association. 2009 Expert Consensus Document on
Pulmonary Hypertension. Journal of the American College of Cardiology Vol. 53, No. 17, 2009.
Loyd, J and Philips, J. Gene Reviews. Heritable Pulmonary Arterial Hypertension. http://www.ncbi.nlm.nih.gov/books/NBK1485/ accessed
5/14/2013.
From www.aruplab.com
Revision 1
Created: xx/xx/xxxx
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