Skeletal Dysplasia With Increased Bone Density: Deletion/Duplication Panel

Condition Description

Skeletal dysplasias are a heterogeneous group of more than 450 disorders with complex genetic etiologies. Clinical and radiographic features can be used reliably to assign patients to general disease categories, but reaching a specific diagnosis, especially at a young age, may be difficult. Identification of the precise genetic defect is important, however, to permit appropriate genetic counseling, anticipatory guidance, and early prenatal diagnosis.

Collectively, the incidence of skeletal dysplasias is estimated to be 1 in 5,000 births. Skeletal dysplasias with increased bone density are characterized by hypermineralization of some or all of the skeleton.

References:
  • Alanay and Lachman. (2011) J Clin Res PediatrEndocrinol. 3(4):163-78.
  • Krakow and Rimoin. (2010) Genet Med. 12(6):327-41.
  • Orioli, Castilla, and Barbosa-Neto. (1986) J Med Genet. 23:328-332.
  • Seaver and Irons. (2009) Genet Med. 11(6):465-70.
  • Warman et al. (2011) Am J Med Genet A. 155A(5):943-68.

Genes (22)

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Indications

This test is indicated for:
  • Patients for whom there is a suspicion of skeletal dysplasia with abnormal radiographic findings indicating increased bone density.

Methodology

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.

Detection and Reference Range

Detection
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.
Reference Range
Please include radiographic findings for expert review at EGL Genetics.

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 (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Whole Blood (EDTA)
WBP

Requirements
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
DNA

Requirements
Microtainer
3µg
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.
  • Skeletal Dysplasia With Increased Bone Density: Sequencing Panel
  • Skeletal Dysplasia: Sequencing Panel

How to Order

Requisition Forms