Achondroplasia (FGFR3) 2 Mutations, Fetal
Also known as: AD PCR FE
Use
This test is used to confirm the diagnosis of achondroplasia in at-risk fetuses or those with ultrasonographic features suggestive of achondroplasia. Achondroplasia is characterized by short stature with disproportionately short arms and legs, a large head, and an increased risk for death in infancy due to spinal cord compression or upper airway obstruction. It is caused by pathogenic mutations in the FGFR3 gene, with a high clinical sensitivity of over 99% for detecting such mutations.
Special Instructions
Informed consent for genetic testing is required, particularly for New York patients. If culture is required, additional processing time will be necessary. Counseling and informed consent are recommended for genetic testing.
Limitations
Mutations other than c.1138G>A and c.1138G>C cannot be detected by this assay. There is a possibility of diagnostic errors due to rare sequence variants or maternal cell contamination of the fetal specimen. Culturing fees will apply if ARUP Laboratories are required to culture the specimens.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 59266-7
- 66746-9
- 31208-2
Result Turnaround Time
2-7 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
10 mL
Minimum Volume
5 mL
Container
Sterile container
Collection Instructions
Transport 10 mL amniotic fluid in a sterile container. Backup cultures must be retained at the client's institution until testing is complete.
Storage Instructions
CRITICAL ROOM TEMPERATURE. Must be received within 2 days of shipment due to liability of cells.
Causes for Rejection
Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 2 days |
| Refrigerated | 2 days |
| Frozen | Unacceptable |