FGFR-Related Skeletal Dysplasias

Forms and Documents

Test Details

FGFR2, FGFR3
  • Diagnosis in a patient based on clinical or radiographic findings suggestive of a skeletal dysplasia
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing

Ordering

J800
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Noel, AE & Brown RN (2014). International Journal of Women\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\
  2. Dighe, M, et. al. (2008). Radiographics 28(4), 1061-1077. PMID: 18635629
  3. Hatzaki, A et. al. (2011). American Journal of Medical Genetics, 155A(10), 2426-2435. PMID: 21910223
  4. Witters, I, Moerman, P & Fryns, JP (2008). Genetic Counseling (Geneva, Switzerland), 19(3), 267-275. PMID: 18990981
  5. Stratbucker, WB (2009). Pediatrics in Review, 30(3), 114-115. PMID: 19255125
  6. Merrill et al. (2012) Am. J. Hum. Genet. 90 (3):550-7 PMID: 22387015
  7. Stichelbout et al. (2016) Am. J. Med. Genet. A 170 (3):785-9 PMID: 26573129