Hypochondroplasia (FGFR3) 2 Mutations (INACTIVE as of 08/17/20: Refer to 2012015)
Confirms a diagnosis of hypochondroplasia in individuals with clinical or radiological evidence of the condition.
Polymerase Chain Reaction/Fluorescence Monitoring
Within 7 days
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
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
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.
|Component Test Code*||Component Chart Name||LOINC|
|0051385||Hypochondroplasia (FGFR3) 2 Mutations|
|2001326||Hypochondroplasia (FGFR3), Specimen|
- FGFR3 molecular assay