Collectively, the incidence of skeletal dysplasia is estimated to be 1 in 5,000 births. Skeletal dysplasias with decreased bone density have impaired ossification, fractures, rickets, and/or osteolysis.
- 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 decreased 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.
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.
- Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel
- Skeletal Dysplasia: Sequencing Panel