COMP Gene Analysis - LG3744


Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Synonyms:Multiple Epiphyseal Dysplasia; Pseudoachondroplastic
Methodology:Capillary sequencing
CPT Code:81479
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 8-9 weeks.
Special Instructions:A completed requisition form must be sent with each sample. A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. See Associated Links.
Associated Links:

Genetic Testing Consent Form, GeneDx Requisition Form



Collection Instructions

Specimen:Blood
Optimal Volume:5 mL (adult), 2 mL (infant)
Minimum\Peds Volume:3 mL (adult), 1 mL (infant)
Causes for Rejection:Frozen, hemolyzed or clotted specimens.


Processing and Shipping

Specimen Processing:Do not process. Whole blood.
Shipping Instructions:Ship overnight at room temperature. Samples may be stored refrigerated up to 7 days prior to shipping.
Test Performed at or Referral Lab Lab Sendouts  (GeneDx, Inc.)
Referral Lab number:249


Interpretive

Reference Range:By report.
Use: Pseudoachondroplasia is a form of skeletal dysplasia. Usually the trunk appears disproportionately long, with individuals having shortened limbs, normal facies and a normal head size and shape. Short stature is typically not apparent at birth, and adult height can range from 35 to 57 inches. In addition to shortened limbs, there can be hypermobility of the joints and over time patients can develop osteoarthritis and may need hip replacement in early adulthood. There can be radiologic findings when looking at the vertebrae and pelvis, but the ribs are usually normal. Pseudoachondroplasia is thought to be an autosomal dominant condition, with most cases being sporadic. Mutations within the cartilage oligomeric matrix protein (COMP) gene, mapped to chromosome 19q12.13.1, can cause pseudoachondroplasia. COMP encodes a cartilage-specific protein that is a member of the thrombospondin family of extracellular calcium binding proteins. Indications for testing: Individuals with clinical features or those with family history of pseudoachondroplasia who are at risk for being affected.


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