<Medical Director/Physician Name>, MD

<Physician Name>, MD

<ZIP>

<Date>

<ZIP>

Re: <Patient Full Name> DOB: <MM/DD/YYYY>

Member ID: <Enter Member ID> Group ID: <Enter Group ID>

Dear Medical Director:

I am writing this letter on behalf of my patient <Patient Name> to request coverage for Cerebral Cavernous Malformations (CCM) genetic testing. This letter documents the medical necessity for this test to confirm the genetic diagnosis of CCM and provides information about the patient’s medical history and treatment.

Patient History and Diagnosis:

<Patient Name> is a <Age> year old <Gender > with a suspected diagnosis of
<Disease Name> due to the following symptoms and clinical findings.

1. <Symptom #1 with ICD-9 code>

2. <Symptom #2 with ICD-9 code>

Family History

These symptoms, as well as the examination are indicative of familial Cerebral Cavernous Malformations. The only way to confirm a diagnosis and determine the genetic cause of Cerebral Cavernous Malformations is to perform this test.

Molecular testing plays an important role in making a definitive diagnosis in cases of suspected Cerebral Cavernous Malformations to treat the patient appropriately and to identify other potentially affected family members. This is an autosomal dominant disease with one of three gene loci (CCM1, CCM2, CCM3), and nearly complete clinical penetrance during a patient’s lifetime. An accurate diagnosis provides the following benefits to the patient:

· CCM follows an autosomal dominant inheritance pattern and therefore can affect many members of a patient’s multi-generational family. First degree relatives have a 50% likelihood of sharing the disease, yet clinical screening by MRI is expensive, and may have occasional false negative results as lesions develop over time. Identifying the patient’s genetic mutations will enable family screening with greater confidence, and will allow MRI screening to be targeted to the 50% of the family at risk. Once the family gene is known, a negative genetic test result for a relative is reassuring not only to that individual, but for all of that individual’s descendants and will alleviate the burden and costs of imaging unaffected relatives and their offspring.

· The different genotypes of CCM are not alike. Particularly, patients with CCM3 gene mutations require specialized care and monitoring. These patients are known to have a particularly severe and multi-systemic disease course including early age of symptom onset, high lesion burden, high hemorrhage rates and an association with meningiomas (Riant et. al 2013, PMID: 23801932).

Recent publications report that as many as 95% of familial CCM patients will harbor a mutation in CCM1, CCM2 or CCM3. Mutations are identified following a tiered approach of standard gene sequencing to be followed with deletion testing, where appropriate. For reference, please see Riant et. al. 2013 (PMID: 23595507) and Schroder et. al, 2013 (PMID: 23722637).

I am requesting that <Patient Name> be approved for <Test Name> testing through <Genetic Testing Company Name>, <Federal ID Code>

with the following CPT code(s): <CPT Codes>. I am specifying <Genetic Testing Company Name> to perform <Test Name> analysis because <Reason to use Company of Choice> for this testing.

I hope you will support this letter of medical necessity for <Patient Name>. Please feel free to contact me at <Physician Phone> if you have additional questions.

Sincerely,

<Physician Name>, MD

NPI #: <Physician NPI#>

&lt;Medical Director/Physician Name&gt;, MD

<Medical Director/Physician Name>, MD