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.
- 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.
- Patients for whom there is a suspicion of skeletal dysplasia with abnormal radiographic findings indicating increased bone density.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Detection and Reference Range
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.
Please include radiographic findings for expert review at Emory Genetics Laboratory.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 10 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Skeletal Dysplasia With Increased Bone Density: Sequencing Panel
- Skeletal Dysplasia: Sequencing Panel