Download When completed, this form will contain Protected Health Information

When completed, this form will contain Protected Health Information. Follow your institutional HIPAA guidelines when
using this form.
Patient/Member Information
Patient Name:
Subscriber Name:
DOB:
DOB
Provider/Contact Information
Ordering Provider:
Contact Person:
Subscriber Number:
Phone:
Fax:
Genetic Test Information
Name of test: Aortopathy Gene Panel
Test Code:
CPT code(s):
ICD10 code(s):
List price:
Do you have a preferred clinical laboratory for genetic testing?
__ NO (or not applicable)
_ YES (provide preferred lab name):
Please state the reason why testing should/must be performed at this laboratory:
Clinical Reasoning for Genetic Test (Attach the clinic note)
*** is a *** year old patient with ***. In addition, our patient has a significant family history of ***.
See clinic note for additional information.
-What laboratory and/or clinical testing have been performed to date (genetic and other testing)?
-Why is genetic testing necessary at this time?
For the purpose of establishing a diagnosis, we are recommending the aortopathy gene panel.
This test includes genes associated with syndromic and non-syndromic causes of aortopathy,
which can have different management and treatment recommendations (see Table 1).
-How will the results of the genetic test, whether negative or positive, impact the future management
of the member being tested?
The table below delineates three major aspects of surveillance or management and the
differences due to the genetic cause. These three examples illustrate the need for the
aortopathy gene panel for our patient. Because we cannot make the diagnosis based on the
clinical evaluation alone we need genetic testing to clarify surveillance and contraindications. It
is obvious that the specific diagnosis has a significant impact on medical management and
surveillance.
Stop the need for further diagnostic testing: If a pathogenic variant is found via this panel it will
stop the need for additional genetic testing as it relates to the above clinical concerns.
Inform on prognosis: Alternative testing methods such as imaging or clinical evaluations alone
are not able to provide the same information as the recommended genetic testing and
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therefore cannot be used to make the diagnosis.1,2,3,4,5 The specific diagnosis a genetic test can
provide significantly informs on prognosis.
Change treatment plan (e.g. medical or surgical decision-making or treatment): There are stark
differences in surgical decision-making and treatment depending on which syndrome an
individual has.
Change surveillance (e.g. annual echocardiograms, either begin or stop): Depending on the
result, different surveillance recommendations are made, see Table 1. Without genetic testing,
expensive imaging surveillance may be recommended yearly when it is not actually required.
Provide information for family members: Identification of a pathogenic variant for our patient
will allow at risk family members to get targeted and informative testing. The family members
found to not carry the pathogenic variant will avoid unnecessary and costly surveillance.
Table 1: Management and Surveillance Comparison Across Connective Tissue Disorders5,6,7,8
Management Comparison Extra-thoracic
Bowel
Surgical
vascular surveillance Rupture intervention
EDSIV
YES
YES
Contra-indicated
Marfan syndrome
NO
NO
Specific Guidelines
Loeys-Dietz syndrome
YES
NO
Lower threshold
-What is the probability that this test will be positive? If this is not known, then please indicate which
clinical features increase the probability that this test will provide a diagnosis.
The detection rate of the test is variable on clinical phenotype.
The clinical features *** has an increased probability the test will provide a diagnosis given
@FNAME@ extensive family history of ***
-If this is a request is for a gene panel, then please describe why a single gene test is not as useful.
A single gene test is not as useful due to the overlap in clinical presentation of the conditions
included on this panel. The conditions included in the differential for @FNAME@ present
similarly, especially in children, so it would be time-consuming and cost more to sequence genes
one by one.
-Please list specific guidelines and/or references in support of your request:
1.
von Kodolitsch Y, Rybczynski M, Bernhardt A, Mir TS, Treede H, et al. Marfan syndrome and the evolving
spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? Vasa. 2010;
39:17–32.
2.
Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012.
Hoffjan S. Molecular Syndromology 3(2):47-58.
3.
Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis. 2010. Genetics in
Medicine 12:344-354.
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using this form.
4.
Tran-Fadulu, V., Pannu, H., Kim, D. H., Vick, G. W., III, Lonsford, C. M., Lafont, A. L., Boccalandro, C., Smart,
S., Peterson, K. L., Hain, J. Z., Willing, M. C., Coselli, J. S., LeMaire, S. A., Ahn, C., Byers, P. H., Milewicz, D.
M. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or
TGFBR2 mutations. J. Med. Genet. 46: 607-613, 2009.
5.
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ. Aortopathies:
etiologies, genetics, differential diagnosis, prognosis and management. Am J Med. 2013 Aug;126(8):670-8.
doi: 10.1016/j.amjmed.2013.01.029. Epub 2013 Jun 22.
6.
Dietz HC. Marfan Syndrome. 2001 Apr 18 [Updated 2011 Dec 1]. In: Pagon RA, Adam MP, Bird TD, et al.,
editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available
from: http://www.ncbi.nlm.nih.gov/books/NBK1335/
7.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau
G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent
nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785.
8.
Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 2008 Feb 28 [Updated 2013 Jul 11]. In: Pagon RA, Adam MP,
Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 19932013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1133/