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Achondroplasia (FGFR3) 2 Mutations
Copy Utility
Confirm clinical or suspected diagnosis of achondroplasia.
Polymerase Chain Reaction/Fluorescence Resonance Energy Transfer
Mon, Thu
2-7 days
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Do not freeze. Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
Serum. Frozen specimens. Hemolyzed specimens.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
By report
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.
Incidence: 1:25,000
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.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
81401
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0051267 | Achondroplasia PCR | 38413-1 |
| 2001290 | Achondroplasia PCR Specimen | 31208-2 |
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