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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2001290||Achondroplasia PCR Specimen|