LETTER OF MEDICAL NECESSITY FOR FAMILIAL THORACIC AORTIC ANEURYSMS/DISSECTIONS
GENETIC TESTING
Date:
Date of service/claim
To:
Utilization Review Department
Insurance Company Name, Address, City, State
Re:
Patient Name, DOB, ID #
ICD-9 Codes: (list codes)
This letter is in regards to my patient and your subscriber, First, Last Name to request full coverage of
medically-indicated genetic testing for Marfan syndrome and other forms of familial thoracic aortic
aneurysms/dissections to be performed by Ambry Genetics Corporation (TIN 33-0892453 / NPI
1861568784), a CAP-approved and CLIA-certified laboratory located at 15 Argonaut, Aliso Viejo, CA 92656.
Up to 20% of patients with a thoracic aortic aneurysm or dissection (TAAD) have a first degree relative with
some aortic disease. These individuals/families can also have other physical characteristics, including
hypermobile joints, Marfanoid habitus, scoliosis, dislocated lens of the eye (ectopia lentis), contractures,
pneumothorax, craniosynostosis, facial clefting, mitral valve prolapse, arterial tortuosity, intracranial and
other arterial aneurysms, or bicuspid aortic valve. However, some individuals/families will not have any
other characteristics beyond TAAD. Significant aspects of my patient’s personal and/or family medical
history that suggest an inherited predisposition to TAAD are below:
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This history indicates a reasonable probability of detecting a mutation in my patient and warrants
germline genetic testing. There are many gene mutations known to predispose to TAAD related disorders
and the ordered genetic test analyzes 20 genes associated with familial TAAD and related conditions: ACTA2,
CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI,
SLC2A10, SMAD3, TGFB2, TGFBR1, and TGFBR2. Mutations in these genes substantially increase the risk for
TAAD and possibly other medical complications. Genetic testing will help clarify my patient’s diagnosis
and/or risk to develop (and potentially die of) TAAD. This genetic testing will also help guide
medical management, screening, and prevention.
This multi-gene test is the most cost-effective way to analyze the implicated TAAD genes and has significant
potential to identify a causative gene mutation in my patient. Identification of a causative gene mutation will
clarify my patient’s diagnosis, risk(s), and medical management. Mutations in these genes are associated
with a significantly increased lifetime risk for TAAD. Depending on the gene mutation found, other medical
risks may also be associated.
Confirmation that my patient carries a mutation through molecular genetic testing will clarify my
patient’s diagnosis/risk for TAAD and other medical complications, and will directly impact my
patient’s care and management. If a mutation is identified, we would adjust medical care to reduce my
patient’s risk of developing and potentially dying of an advanced stage aneurysm and dissection. An
aggressive approach following established screening guidelines is indicated in individuals who carry a
mutation. Management recommendations for TAAD include echocardiograms and cerebrovascular imaging.
Medical treatment to reduce hemodynamic stress, such as losartan or beta adrenergic-blocking agents, is
routinely advised for individuals with familial TAAD related disorders. Other cardiovascular risk factors such
as hyperlipidemia should be addressed. Increased surveillance after diagnosis of an aneurysm including
imaging should be repeated more frequently to determine the appropriate time for surgical repair. Because
aortic dilatation may be present in childhood, medical therapy should be considered in children as well as
adults with aortic dilatation. Prophylactic surgical repair of the aorta is recommended for some individuals
to prevent a life-threatening aortic dissection or rupture. Proper and timely repair of aortic aneurysms is
critical to preventing aortic dissection, which is often fatal [1,2].
The TAADNext panel includes full gene sequencing of these 20 genes, along with deletion/duplication
analysis of 17 genes. Due to the known risks associated with these mutations and the available
interventions, this genetic testing is medically warranted. As such, I am ordering this testing as medically
necessary and affirm that my patient has provided informed consent for genetic testing.
A positive test result would confirm a genetic diagnosis and/or risk in my patient, and would ensure my
patient is being managed appropriately. I am specifying Ambry Genetics Corporation because this laboratory
has highly-sensitive and cost-effective testing for familial TAAD, along with a large database of tested
patients to ensure the most validated, accurate, and informative test interpretation.
I recommend that you support this request for coverage of diagnostic genetic testing for familial TAAD in my
patient. Depending on the exact test ordered, genetic testing can take up to several months to complete and
the laboratory will not bill until testing is concluded. Therefore, we are requesting that the authorization be
valid for 6 months.
Thank you for your time and please don’t hesitate to contact me with any questions.
Sincerely,
Ordering Clinician Name (Signature Provided on Test Requisition Form)
(MD/DO, Clinical Nurse Specialist, Nurse-Midwives, Nurse Practitioner, Physician Assistant, Genetic
Counselor*)
*Authorized clinician requirements vary by state
Test Details
CPT codes:
81406x1 (gene sequence analysis); 81405x3; 81408x1 (FBN1 gene sequence analysis)
Laboratory:
Ambry Genetics Corporation (TIN 33-0892453 / NPI 1861568784), a CAP-accredited and
CLIA-certified laboratory located at 15 Argonaut, Aliso Viejo, CA 92656
References:
1.
Milewicz DM, Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13 [Updated
2012 Jan 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle
(WA): University of Washington, Seattle; 1993-2014.Available from:
http://www.ncbi.nlm.nih.gov/books/NBK1120/
2.
Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, et al.
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and
management of patients with thoracic aortic disease: executive summary. A report of the American
College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines,
American Association for Thoracic Surgery, American College of Radiology, American Stroke
Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and
Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for
Vascular Medicine. Catheter Cardiovasc Interv. 2010 Aug 1;76(2):E43-86.