<Date>
ATTN:
<Medical Director/ Physician Name, M.D.>
<Institution/Insurance Company>
<Street Address>
<City, State, Zip>
RE:
DOB:
MEMBER ID:
Group #:
<Patient Name>
<MM/DD/YYYY>
<Insurance ID #>
<Group #>
Dear Medical Director:
I am writing on behalf of my patient <patient name> to request coverage for genetic testing with
the Complete Tuberous Sclerosis Evaluation assay. This letter documents the medical necessity
for genetic testing to confirm the diagnosis of tuberous sclerosis complex (TSC), and as such
provides information about my patient’s medical and family history.
This test employs DNA sequencing and multiplex ligation-dependent probe amplification (MLPA)
to identify TSC-associated mutations and deletions of the TSC1 and TSC2 genes. Results from
the test will be used to help establish confirm the diagnosis and guide appropriate medical care.
I have determined that this test is medically necessary because of the following aspects of this
patient’s history:
<Patient Name> is a <age>-year-old <gender> with a suspected diagnosis of TSC (<ICD-9
code(s)>) because of the following symptoms and clinical findings:
1.
2.
3.
4.
5.
6.
7.
<Eg. Tuberous Sclerosis, ICD-9 code:>
<Eg. Autism Spectrum Disorder, ICD-9 code:>
<Eg. Infantile Spasms, ICD-9 code:>
<Eg. Facial Angiofibromas, ICD-9 code:>
<Eg. Angiomyolipomas, ICD-9 code:>
<Eg.additional relevant symptoms with ICD-9 codes:>
< Eg. Family history includes XX family member with similar symptoms >
Taken together, the clinical [[and family]] history is suggestive of TSC.
Rationale for Testing
Although many patients exhibit the first indications of TSC before age 1, it often remains
undiagnosed for years.2 This is because definite clinical diagnosis of TSC requires the presence
of at least 2 clinical features of disease, which may appear only over a period of several years or
may be mild and non-specific (eg, hypomelanotic macules) and thus not a concern in isolation.
Moreover, even severe presenting symptoms may be non-specific (e.g. intellectual disability,
epilepsy, or autism spectrum disorder). A lack of family history is similarly indeterminate, as
approximately two-thirds of TSC cases are sporadic.
Genetic testing can help confirm the diagnosis early on in patients whose clinical features are
suggestive of TSC, and thus has potential to speed initiation of medical surveillance and delivery
of appropriate management.1 According to current recommendations, detection of a pathogenic
TSC1 or TSC2 mutation is diagnostic of TSC even in patients who do not meet clinical criteria. 1
Athena’s Complete Tuberous Sclerosis Evaluation covers both genes known to be associated
with TSC (TSC1 and TSC2) with 70% to 90% clinical sensitivity.1 The benefits of this test for my
patient may include:




Accurate genetic diagnosis
Referral to a multidisciplinary TSC clinic that can provide comprehensive surveillance and
management of the multi-system complications of TSC (which may include neurologic,
cardiac, pulmonary, renal, and dermatologic complications).
[[If the patient has epilepsy, add the following statement: “Guide antiepileptic use.2”]]
[[If the patient has SEGAs, add the following statement: “Guide treatment of
subependymal giant cell astrocytomas (SEGAs), a TSC-associated brain tumor for which
there is an approved drug: Afinitor (everolimus; marketed by Novartis).]]
In short, the results of this genetic test will help determine the diagnosis so that I can proceed
with the proper treatment and management. I am therefore requesting that <patient name> be
approved for the Complete Tuberous Sclerosis Evaluation offered by Athena Diagnostics (test
code 556; CPT codes: 81405 (x1), 81406 (x2), and 81407 (x1). I am specifying Athena
Diagnostics to perform this test because Athena provides a highly specific and sensitive (>99%
technical sensitivity) test with variant interpretation through its Athena Insight program. This
program uses not only public databases, but an extensive proprietary database formed over
years of testing to ascertain potential pathogenicity.
Please support my decision for genetic testing for epilepsy for <patient name>and feel free to
contact me at <physician phone number>if you have additional questions.
Sincerely,
<Physician Name>, <credentials>
NPI #: <NPI#>
Contact information: <Address if not on physician letterhead>
Contact Phone No.: <phone number>
Attachments: <Additional supporting documents>
Reference
1. Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update:
recommendations of the 2012 international tuberous sclerosis complex consensus
conference. Pediatr Neurol. 2013;49:243-254.