Collectively, the incidence of skeletal dysplasia is estimated to be 1 in 5,000 births. Skeletal dysplasia is referred to as generalized disorders of cartilage and bone, frequently resulting in disproportioned short stature. These disorders can range greatly in severity, from precocious arthropathy in relatively average stature individuals to severe dwarfism with perinatal mortality. A variety of complications can be associated with skeletal dysplasia, including orthopedic, neurologic, auditory, visual, pulmonary, cardiac, renal, and psychological. Five major groups are included in this panel: proportionate short stature; disproportionate short stature; skeletal dysplasias with increased bone density; skeletal dysplasias with decreased bone density osteolysis; and limb malformations.
- Alanay and Lachman. (2011), J Clin Res Pediatr Endocrinol. 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.
- Confirmation of a clinical diagnosis of skeletal dysplasias.
- Carrier testing in adults with a family history of skeletal dysplasias.
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.
- Skeletal Dysplasia: Sequencing Panel