Download Ornithine Transcarbamylase Deficiency (OTC)

[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 Ornithine Transcarbamylase
Deficiency (OTC). Classic OTC deficiency is a urea cycle disorder characterized by hyperammonemia, cyclical
vomiting, seizures, lethargy, coma and neonatal death if not treated. Children who survive the neonatal period are
at risk for complications such as developmental delay and intellectual disability. Female carriers of OTC may
experience altered mental status, seizures, coma and death, in the antepartum and immediate postpartum period.
Multidisciplinary management of pregnancies is required for favorable outcomes. Over the last few decades,
survival of newborns with OTC has improved dramatically due to rapid diagnosis and updated treatment
strategies. Diagnostic testing for OTC deficiency typically includes plasma ammonia, plasma amino acid, and
urine orotic acid analysis, followed by molecular genetic testing of the OTC gene.
This patient is suspicious for OTC 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,
[Name of Ordering Physician]
From www.aruplab.com
Revision 1
Created: 03/29/2013
References:
1. Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after treatment with phenylacetate and benzoate for ureacycle disorders. Available online. 2007.
2. Haberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, KarallD, Martinelli D, Crespo PS, Santer R, Servais A,
Valayannopoulos V, Linder M, Rubio V, Dionisi-Vici C. (2012): Suggested guidelines for the diagnosis and management of urea cycle
disorders. Orphanet Journal of Rare Diseases7:32
3. Mendez-Fiqueroa H, Lamance K, Aaqaard-Tillery K, Van den Veyver 2010: Management of ornithine transcarbamylase deficiency in
pregnancy. Am J. Perinatol; 27(10):775-84.
4. New England Consortium of Metabolic Programs: Ornithine Transcarbamylase Deficiency (OTC Deficiency).
http://newenglandconsortium.org/for-professionals/acute-illness-protocols/urea-cycle-disorders/ornithine-transcarbamylase-deficiencyotc/ Accessed 03-29-2013
From www.aruplab.com
Revision 1
Created: 03/29/2013