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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81401
Components
Component Test Code*Component Chart Name
0051267Achondroplasia PCR
2001290Achondroplasia PCR Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References