ARUP's Laboratory Test Directory
| 0051266: Achondroplasia Mutation |
| Test Mnemonic: AD PCR | |
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Methodology: Polymerase Chain Reaction/Fluorescence Resonance Energy Transfer
Performed: Mon, Thu Reported: 2-7 days |
| Specimen Required: | |
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Collect: One 5 mL lavender (EDTA) or pink (K2EDTA). Also acceptable: yellow (ACD Solution A), light blue (sodium citrate), or green (sodium or lithium heparin).
Transport: 5 mL whole blood at 2-8°C. (Min: 1 mL) Pediatric Collection/Transport: 1 mL whole blood at 2-8°C. Remarks: Do not freeze. Unacceptable Conditions: Serum. Hemolyzed, or frozen specimens. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
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| Reference Interval: |
| By report |
| Interpretive Data: | |
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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. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| CPT Code(s): | |
| 83890 Isolation; 83898 Amplification; 83896 x2 Nucleic acid probes; 83912 Interpretation and report. Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |