[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 Medium-Chain Acyl-Coenzyme A
Dehydrogenase (MCAD) deficiency. MCAD deficiency is a hereditary metabolic condition that prevents the body
from converting certain fats to energy, particularly during fasting, which can lead to recurrent hypoglycemia,
dicarboxylic aciduria, hepatic failure, Reye-like symptoms, seizures, encephalopathy, and sudden death. Patients
with MCAD deficiency can be clinically asymptomatic, and without prior indication of a metabolic condition, 2025 percent of patients with MCAD deficiency will die with their first episode of illness. The prognosis is
excellent, however, for patients diagnosed presymptomatically, and death can be prevented with timely diagnosis
of affected individuals. Diagnostic testing for MCAD deficiency typically includes plasma acylcarnitine, urine
organic acid, and urine acylglycine analysis, followed by molecular genetic testing of the ACADM gene, the only
gene associated with MCAD deficiency.
This patient is highly suspicious for MCAD deficiency based on [describe symptomatology, newborn screening
results, and/or biochemical profile] 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: 03/25/2013
References:
1. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Gene Reviews. http://www.genetests.org (accessed July 10, 2007).
2. Chace DH, et al. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.
Annu Rev Genomics Hum Genet 2002; 3:17-45.
3. Andresean BS, et al. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of
newborns differ from those observed in patients with clinical symptoms. Am J Hum Genet 2001; 68:1408-18.
4. Kingsmore S. (2012). Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr.
2012 May 2:e4f9877ab8ffa9. doi: 10.1371/4f9877ab8ffa9.
From www.aruplab.com
Revision 1
Created: 03/25/2013