Achondroplasia (FGFR3) 2 Mutations
Also known as: AD PCR
Use
The Achondroplasia (FGFR3) 2 Mutations test is used to confirm clinical or suspected diagnosis of achondroplasia. Achondroplasia is characterized by short stature with disproportionately short arms and legs, and a large head. It usually results in a normal life span and intelligence but there is an increased risk of death in infancy due to compression of the spinal cord and/or upper airway obstruction. This test detects the two most common mutations in the FGFR3 gene associated with achondroplasia, providing a clinical sensitivity of greater than 99%.
Special Instructions
New York Clients: Informed consent is required with submission of the sample. Counseling and informed consent are recommended for genetic testing.
Limitations
The test detects only the FGFR3 gene mutations c.1138G>A (G1138A) and c.1138G>C (G1138C). Other potential mutations in the FGFR3 gene associated with achondroplasia will not be detected. There is a possibility of diagnostic errors due to rare sequence variants or technical errors during the testing process.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 38413-1
- 31208-2
Result Turnaround Time
2-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Preferred transport temperature is refrigerated.
Causes for Rejection
Plasma or serum; Frozen specimens in glass collection tubes; Hemolyzed specimens; Heparinized specimen
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |