Achondroplasia (FGFR3) 2 Mutations
0051266
Ordering Recommendation
Rule out achondroplasia.
Mnemonic
AD PCR
Methodology
Polymerase Chain Reaction/Fluorescence Resonance Energy Transfer
Performed
Mon, Thu
Reported
2-7 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
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
Refrigerated.  
Unacceptable Conditions
Serum. Frozen specimens. Hemolyzed specimens.  
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
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.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81401
Components
Component Test Code*Component Chart NameLOINC
0051267Achondroplasia PCR38413-1
2001290Achondroplasia PCR Specimen 
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Aliases