Chronic Granulomatous Disease (CGD)

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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 testing for chronic granulomatous disease (CGD). CGD is a
primary immunodeficiency disorder characterized by recurrent, severe bacterial and fungal infections of the skin, lymph
nodes, liver, lungs, bones, or visceral organs. Dysregulated inflammatory responses result in granulomas at infection
sites. Early diagnosis is essential, as disease management relies on lifelong antibiotic and antifungal prophylaxis. X-linked
CGD is associated with CYBB gene mutations, while autosomal recessive CGD most commonly results from mutations in
the NCF1 gene. Molecular testing to determine the disease-causing mutation(s) is required to initiate the appropriate
antimicrobial prophylaxis in symptomatic individuals, to confirm carrier status, and to allow for genetic
counseling/prenatal testing.
This patient may be affected with/a carrier of CGD based on [describe symptomatology and/or family history]. 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:
From www.aruplab.com
Revision 1
Created: 05/13/2013
Hill HR, et al. Rapid genetic analysis of X-linked chronic granulomatous disease by high-resolution melting. J Mol Diagn.
2010;12:368-376.
Seger RA. Chronic granulomatous disease: recent advances in pathophysiology and treatment. Neth J Med. 2010;68:334340.
From www.aruplab.com
Revision 1
Created: 05/13/2013
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