Multiple Epiphyseal Dysplasia: Deletion/Duplication Panel

Condition Description

Multiple epiphyseal dysplasiais (MED; also known as epiphyseal dysplasia, multiple, EDM) is a group of skeletal disorders with heterogeneous genetic causes. MED has seven subtypes with a continuum of clinical severity among these types. Clinical and radiographic features continue to be used reliably to assign patients to this general disease category. Identification of the precise genetic defect is important, however, to permit carrier testing and early prenatal diagnosis. Molecular analysis is likely to expand the clinical spectrum of MED and may also provide data relevant to prognosis and future therapeutic intervention. The overall incidence of MED is estimated to be 1 in 10,000 births. Although the phenotype range is broad, MED is mainly characterized with short stature and early-onset osteoarthrosis. Radiographic findings for MED show a generalized abnormality of epiphyseal ossification without significant vertebral involvement. MED can be inherited in an autosomal dominant or autosomal recessive manner. The autosomal recessive form of MED includes features such as club foot and bilateral double-layered patellae.

  • Ballhausen et al. (2003) J Med Genet. 40: 65-71.
  • Ballo, Beighton, and Ramesar. (1998) Am J Med Genet. 80: 6-11.
  • Briggs and Chapman. (2002) Hum Mutat. 19: 465-78.
  • Lachman et al. (2005) Pediatr Radiol. 35: 116-23
  • GeneReviews

Genes (7)

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This test is indicated for individuals with:
  • Short stature and early-onset osteoarthrosis.
  • An abnormal radiographic findings show a generalized abnormality of epiphyseal ossification without significant vertebral involvement.


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.


Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.

Special Instructions

Radiographic results can help interpretation.
  • Multiple Epiphyseal Dysplasia: Sequencing Panel

How to Order

Requisition Forms