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0051266
Achondroplasia (FGFR3) 2 Mutations
AD PCR
Ordering Recommendation
Confirm clinical or suspected diagnosis of achondroplasia.
New York DOH Approval Status
This test is New York state 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
Plasma or serum. Frozen specimens in glass collection tubes. Hemolyzed specimens. Heparinized specimen.
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Methodology
Polymerase Chain Reaction (PCR)/Fluorescence Monitoring
Performed
Varies
Reported
2-7 days
Reference Interval
By report
Interpretive Data
Refer to report
Compliance Category
Laboratory Developed Test (LDT)
Note
Hotline History
N/A
CPT Codes
81401
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0051267 | Achondroplasia PCR | 38413-1 |
| 2001290 | Achondroplasia PCR Specimen | 31208-2 |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Achondroplasia (FGFR3) 2 Mutations
