Limb Girdle Muscular Dystrophy Advanced Evaluation

Limb Girdle Muscular Dystrophy Advanced Evaluation

<Date>

ATTN: <Medical Director/ Physician Name>, MD

RE: <Patient Name>

DOB: <MM/DD/YYYY>

Member ID: <Insurance ID Number>

Group #: <Enter Group #>

Dear Medical Director:

I am writing on behalf of my patient <Patient Name> to request coverage for the Athena Diagnostics Limb Girdle Muscular Dystrophy Advanced Evaluation (23 genes). I have determined that this test is medically necessary because of the following aspects of my patient’s history:

<Patient Name> is a <age> -year-old <gender > with a suspected diagnosis of muscular dystrophy due to the following symptoms and clinical findings:

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

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

3. <Symptom #3 with ICD-9 code>

Add additional details if relevant >

The patient’s family history of limb girdle muscular dystrophy (LGMD) is <negative or unknown; add additional details if relevant>.

Additionally, the following testing has previously been performed: <testing previously performed, and how it rules out other etiology>.

Rationale for Testing

LGMD is a heterogeneous group of disorders characterized by voluntary muscular weakness and wasting of mainly proximal muscles, specifically around the shoulders and pelvis. The over 24 identified subtypes of LGMD can vary widely in severity and prognosis.1 Definitive diagnosis is crucial because management of the disease, particularly with respect to cardiac and respiratory involvement, is based on the subtype.1 However, the specific subtype of LGMD can be difficult to determine because of variability in the age of disease onset and progression of symptoms.

Traditional DNA sequencing using Sanger-based methodology to detect individual mutations can be time consuming and costly when testing a large numbers of genes. Next-generation sequencing (NGS), on the other hand, allows sequencing of multiple genes simultaneously. Thus, targeted NGS panels seem appropriate for detecting mutations in disorders that have highly heterogeneous genetic backgrounds, such as the LGMDs.

Results from the test may be used to confirm the diagnosis of LGMD in this patient and to guide medical management and treatment. Specifically, the results may:

· Inform treatment decisions; for example:

§ Selection of appropriate treatment options, including cardiac and respiratory interventions to prevent life-threatening complications.1

§ Help identify candidates for clinical trials for genetically defined muscular dystrophies.

· Help avoid a long series of laborious and potentially costly diagnostic procedures.

· Provide information useful for family planning.

In summary, I am requesting that <Patient Name> be approved for the Limb Girdle Muscular Dystrophy Advanced Evaluation (test code 5519) offered by Athena Diagnostics. The CPT codes for this test are 81404(3), 81405(7), 81406(6), 81408(1), 81479(1). I hope you will support my decision to perform LGMD genetic testing for this patient. Please feel free to contact me at <Physician Phone> if you have additional questions.

Sincerely,

<Physician Name>, MD

NPI #: <Physician NPI#>

Contact information:

< Address>

Contact Phone No.: <phone number>

References

1. Pegoraro E and Hoffman EP. Limb-Girdle Muscular Dystrophy Overview (last updated 2012). In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CR, Stephens K, eds. GeneReviews. Seattle (WA); 1993.