Hypochondroplasia (FGFR3) 2 Mutations
0051367
Ordering Recommendation
Diagnostic testing for hypochondroplasia.
Submit With Order
Mnemonic
HYPOCH
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Mon, Thu
Reported
Within 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
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report
Interpretive Data
Background Information for Hypochondroplasia (FGFR3) 2 Mutations:
Characteristics:
Short stature, stocky build, large head, shortening of the proximal or middle segments of the extremities, short broad hands and feet, limitation of elbow extension, and mild joint laxity. Phenotype not evident in infancy, becomes apparent in childhood.
Incidence:
1:15,000-40,000
Inheritance:
Autosomal dominant; usually arising from a de novo mutation.
Cause:
70 percent of cases result from an A or G nucleotide substitution for C at 1620 in the FGFR3 gene.
Methods:
PCR and fluorescent resonance energy transfer.
Limitations:
Mutations in FGFR3 and other than c.1620C>A or c.1620C>G will not be detected. Diagnostic errors can occur due to rare sequence variations.
Analytic Sensitivity and Specificity:
99 percent
Clinical Sensitivity:
70 percent

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
0051385Hypochondroplasia (FGFR3) 2 Mutations
2001326Hypochondroplasia (FGFR3), Specimen
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Cross References
  • FGFR3 molecular assay