Emery-Dreifuss Muscular Dystrophy (EDMD1) via the EMD Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7633 EMD 81405 81405,81404 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7633EMD81405 81404, 81405 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogeneous disorder characterized by: 1) joint contractures with early childhood onset, 2) slowly progressing muscle weakness and wasting, and 3) cardiac conduction defects. Typically, the presenting symptom of X-linked EDMD is joint contractures of elbows, Achilles tendon, and post cervical muscles. Loss of ambulation may result from severe contractures of the spine and lower limbs but is rare in X-linked EDMD. Muscle weakness and wasting is slowly progressive until after the third decade of life. The initial muscle groups affected follow a humero-peroneal distribution, and scapular and pelvic girdle muscles become affected later in the course of the disease. The presenting clinical signs of muscle weakness include toe-walking and a waddling gait. Cardiac conduction defects are the most severe manifestation of EDMD, and female carriers without signs of skeletal muscle weakness or of contractures have been reported with cardiac disease (Emery. J Med Genet 26:637-641, 1989; Buckley et al. Heart 82:105-108, 1999). Cardiac disease can present in teenagers and includes conduction defects, dilated cardiomyopathy, and infiltration of the myocardium by fibrous and adipose tissue (Buckley et al. Heart 82:105-108, 1999). Serum CK levels are moderately elevated, most commonly in the early stages of disease (Bonne et al. Ann Neurol. 48:170–180, 2000). Age of onset and disease severity demonstrate both inter-and intra-familial variability (Mercuri et al. Neurology 54:1704–1705, 2000).

Genetics

Emery-Dreifuss muscular dystrophy can be inherited as an autosomal dominant disorder secondary to variants in LMNA, SYNE1,or SYNE2; as an autosomal recessive disorder secondary to LMNA variants; or as an X-linked recessive disorder secondary to FHL1 or EMD variants. EMD (OMIM 300384) encodes emerin, an inner nuclear membrane-localized protein with a role in membrane anchorage to the cytoskeleton through association with lamin A (Bione et al. Proc Natl Acad Sci USA 90:10977-10981, 1993). Immunostaining of muscle biopsy from most EDMD1 patients shows complete absence of emerin. Consistent with this finding, the majority of pathogenic variants in EMD are nonsense variants; small, out-of-frame insertions and deletions; splice site variants; and gross deletions.

Clinical Sensitivity - Sequencing with CNV PG-Select

EMD gene sequencing is reported to detect ~99% of individuals who have all three major clinical symptoms, have established X-linked inheritance, and have absent emerin by western blot or immunohistocytochemistry (Manilal et al. Hum Mol Genet 7:855–864, 1998). EMD is the most common cause of X-linked EDMD, but over-all EMD is less common than autosomal dominant EDMD caused by LMNA variants.

Testing Strategy

This test provides full coverage of all coding exons of the EMD gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with symptoms consistent with Emery-Dreifuss muscular dystrophy and X-linked recessive inheritance.

Gene

Official Gene Symbol OMIM ID
EMD 300384
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Emery-Dreifuss Muscular Dystrophy 1, X-Linked XL 310300

Related Tests

Name
Comprehensive Cardiology Panel
Pan Cardiomyopathy Panel

Citations

  • Bione, S., et.al. (1993). "Transcriptional organization of a 450-kb region of the human X chromosome in Xq28." Proc Natl Acad Sci U S A 90(23): 10977-81. PubMed ID: 8248200
  • Bonne, G., et.al. (2000). "Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene." Ann Neurol 48(2): 170-80. PubMed ID: 10939567
  • Buckley A, Dean J, Mahy I. 1999. Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. Heart 82: 105–108. PubMed ID: 10377322
  • Emery, A. E. (1989). "Emery-Dreifuss syndrome." J Med Genet 26(10): 637-41. PubMed ID: 2685312
  • Manilal, S., et.al. (1998). "Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression." Hum Mol Genet 7(5): 855-64. PubMed ID: 9536090
  • Mercuri, E., et.al. (2000). "Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)." Neurology 54(8): 1704-5. PubMed ID: 10762524

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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