About this test
Detects the FGFR3 variants that cause achondroplasia and related skeletal dysplasias such as hypochondroplasia.
- Clinical area
- Inherited disorders
- Method
- Sanger sequencing
- Sample
- EDTA whole blood · Extracted DNA · Amniotic fluid or CVS
- Report languages
- EN · AR · RU
When to order
Short limbs on prenatal ultrasound, or disproportionate short stature in children.
Results are reported to the ordering physician and should be interpreted in clinical context.
Request this test
Offer this test to your patients.
Contract pricing and turnaround times are provided on request for laboratories and clinics.
Inherited disorders