Congenital Muscular Dystrophy Advanced Sequencing Evaluation
<Date>
ATTN:
<Medical Director/ Physician Name>, MD
<Institution/Insurance Company>
<Street Address>
<City>, <State> <Zip>
RE:
DOB:
Member ID:
Group #:
<Patient Name>
<MM/DD/YYYY>
<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 Congenital
Muscular Dystrophy Advanced Sequencing Evaluation test (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 congenital muscular dystrophy due to
the following symptoms and clinical findings:
1. <Symptom #1 with ICD code>
2. <Symptom #2 with ICD code>
3. <Symptom #3 with ICD code>
< Add additional details if relevant >
The patient’s family history of congenital 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 congenital muscular dystrophies are a clinically and genetically heterogeneous group of neuromuscular diseases
that often present at birth or in early infancy. Symptoms may include congenital hypotonia, delayed motor
development, contractures (limited range of movement in a joint), progressive muscle weakness and wasting, and
possibly elevation of serum creatine kinase. Many subtypes have abnormalities of the eye (congenital myopia,
glaucoma, atrophy of the optic nerve, retinal degeneration), skin, and brain (seizures and intellectual disability), and
severe cardiac complications.1 Symptoms may overlap with the limb girdle muscular dystrophies or non-progressive
congenital myopathies.2
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, NGS is medically appropriate for detecting mutations in disorders
that have highly heterogeneous genetic backgrounds, such as the congenital muscular dystrophies.
Results from the test will be used to confirm (or exclude) the diagnosis of congenital muscular dystrophy 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 including electrodiagnositc
studies and muscle biopsy

Identify causative mutations in patients with an uncommon or nonspecific presentation

Provide information useful for family planning.
In summary, I am requesting that <Patient Name> be approved for the Congenital Muscular Dystrophy Advanced
Sequencing Evaluation (test code 5502) offered by Athena Diagnostics. This gene panel is based on a peer-reviewed
gene table of monogenic neuromuscular disorders.3 The CPT codes for this test are 81404(2), 81405(2), 81406(3),
81407(3), 81408(1), 81479(1). I hope you will support my decision to perform congenital muscular dystrophy 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>
<City>, <State> <Zip>
Contact Phone No.: <phone number>
References
1. Kirschner J. Congenital Muscular Dystrophies: Handbook of Clinical Neurology 2013: 113: 1377-85
2. 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.
3. Kaplan JC. The 2012 Version of the Gene Table of Monogenic Neuromuscular Disorders. Neuromuscular
Disorders 2011: 21: 833-61.