Reference Interval:
By report
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| Interpretive Data: |
Background Information for Hypochondroplasia (FGFR3) 1 Mutation:
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/G will not be detected.
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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83898 x2 Amplification; 83896 x4 Nucleic acid probes; 83912 Interpretation and report. Additional CPT code modifiers may be required for procedures to test for oncologic or inherited disorders.
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