Reference Interval:
By report
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| Interpretive Data: |
Interpretive Data: This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
Test Information:
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% arise from de novo mutations.
Methods: PCR and fluorescent hybridization probes.
Limitations: Mutations other than c.1138G>A and c.1138G>C will not be detected.
Analytical Sensitivity and Specificity: Greater than 99%
Clinical Sensitivity: Two mutations, c.1138G>A and c.1138G>C, in the FGFR3 gene account for greater than 99% of cases.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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| CPT Code(s): |
83890 Isolation; 83898 Amplification; 83896 x2 Nucleic acid probes; 83912 Interpretation and report. FCC: 83900 Multiplex amplification; 83901 x14 Additional amplification; 83909 Capillary electrophoresis. MCC (0050608): 83890 Isolation; 83900 Amplification; 83901 x14 Amplification; 83909 Separation and identification; 83912 Interpretation and report.
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