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. Limb malformation consists of hypoplastic or absent bones of the limbs. These abnormalities can be isolated or associated with variety of other anomalies such as septal defects of the heart, renal anomaly, etc.
- 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.
- Patients for whom there is a suspicion of skeletal dysplasia with limb malformation.
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.
- Limb Malformation: Sequencing Panel
- Skeletal Dysplasia: Sequencing Panel