Confirm clinical or suspected diagnosis of achondroplasia.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Do not freeze. Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Serum. Frozen specimens. Hemolyzed specimens.
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Short stature with disproportionately short arms and legs, a large head, usually normal life span and intelligence; increased risk for death in infancy from compression of spinal cord and/or upper airway obstruction.
Inheritance: Autosomal dominant; 80 percent arise from de novo mutations.
Penetrance: 100 percent
Cause: Pathogenic FGFR3 gene mutation
Clinical Sensitivity: Two mutations, c.1138G>A and c.1138G>C, in the FGFR3 gene account for greater than 99 percent of cases.
Methodology: PCR and fluorescent hybridization probes.
Analytical Sensitivity and Specificity: Greater than 99 percent
Limitations: Mutations other than c.1138G>A and c.1138G>C will not be detected. Diagnostic errors can occur due to rare sequence variations.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
|Component Test Code*||Component Chart Name||LOINC|
|2001290||Achondroplasia PCR Specimen|