Muscular Dystrophy Advanced Evaluation

Muscular Dystrophy Advanced Evaluation
Member ID:
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<Medical Director/ Physician Name>, MD
<Institution/Insurance Company>
<Street Address>
<City>, <State> <Zip>
<Patient Name>
<Insurance ID Number>
<Enter Group #>
Dear Medical Director:
I am writing on behalf of my patient <Patient Name> to request coverage for the Athena Diagnostics Muscular
Dystrophy Advanced Evaluation test (33 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 muscular dystrophy 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
The muscular dystrophies are a clinically and genetically heterogeneous group of diseases characterized by skeletal
muscle weakness and progressive wasting that may lead to premature death. The disease severity, age of onset,
rate of progression, mode of inheritance, complications, and prognosis vary greatly, and the distribution of muscle
weakness greatly overlaps among the different forms of muscular dystrophy. These factors make definitive diagnosis
extremely difficult.1
Subtypes of muscular dystrophy include:
Duchenne muscular dystrophy (DMD): a rapidly progressive muscular dystrophy that usually presents in
early childhood with delayed milestones, including delays in sitting and standing independently. It may
progress rapidly, with affected children being wheelchair bound by age 12 and experiencing cardiomyopathy
after 18 years of age. Death from respiratory or cardiac complications is common in the third decade of life.
Becker muscular dystrophy (BMD): characterized by later-onset muscle weakness, but often leads to heart
failure and death from dilated cardiomyopathy in the mid-40s. The DMD gene that causes Duchenne and
Becker Muscular Dystrophy is located on the X chromosomes and predominantly affects males, although
females heterozygous for a DMD mutation are at increased risk for cardiomyopathy.2
Limb girdle muscular dystrophy: a group of disorders similar to DMD, but affecting both genders equally
because of autosomal inheritance patterns.
Emery-Dreifuss muscular dystrophy: characterized by joint contractures beginning in early childhood, slowly
progressive muscle weakness in a humeroperoneal distribution, and cardiac involvement after the second
decade, with high inter- and intra-familial variability.3
Facioscapulohumeral muscular dystrophy (FSHD): manifests with muscle weakness involving the face,
scapular stabilizers, upper arm, lower leg, and hip girdle. Age of onset and symptom severity are highly
variable, with 20% of affected individuals requiring a wheelchair.
Congenital muscular dystrophy (CMD): a heterogeneous group of inherited muscular dystrophies that
typically manifest with weakness apparent at birth or in early infancy. Infants may present with hypotonia or
fail to meet motor milestones. It may overlap with LGMD or non-progressive congenital myopathies.4
Distal myopathies (DM): present with weakness in the distal muscles of the feet or hands.
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 simultaneous. Thus, NGS seems appropriate for detecting mutations in disorders that
have highly heterogeneous genetic backgrounds, such as the muscular dystrophies.
Results from the test may be used to confirm the diagnosis of muscular dystrophies 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.
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 Muscular Dystrophy Advanced Evaluation
(test code 5501) offered by Athena Diagnostics. The CPT codes for this test are 81161(1), 81404(4), 81405(9),
81406(8), 81408(2), 81479(1). I hope you will support my decision to perform muscular dystrophy genetic testing for
this patient. Please feel free to contact me at <Physician Phone> if you have additional questions.
<Physician Name>, MD
NPI #: <Physician NPI#>
Contact information:
< Address>
<City>, <State> <Zip>
Contact Phone No.: <phone number>
1. Mercuri E, Muntoni F. Muscular dystrophies. Lancet 2013:381:845-60.
2. Darras BT, Miller DT, Urion DK. Dystrophinopathies (last updated 2014). In: Pagon RA, Adam MP, Bird TD, et
al, eds. GeneReviews. Seattle, WA:1993.
3. Bonne G, Leturcq F, Ben Yaou R. Emery-Dreifuss muscular dystrophy (last updated 2013). In: Pagon RA,
Adam MP, Bird TD, et al, eds. GeneReviews. Seattle, WA:1993.
4. Sparks S, Quijano-Roy S, Harper A, et al. Congenital muscular dystrophy overview (last updated 2012). In:
Pagon RA, Adam MP, Bird TD, et al, eds. GeneReviews. Seattle, WA:1993.