Confirm clinical or suspected diagnosis of achondroplasia.
Polymerase Chain Reaction/Fluorescence Resonance Energy Transfer
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Do not freeze. Transport 3 mL whole blood. (Min: 1 mL)
Serum. Frozen specimens. Hemolyzed specimens.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Background information for Achondroplasia (FGFR3) 2 Mutations:
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.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2001290||Achondroplasia PCR Specimen||31208-2|