Forms and Documents
Test Details
A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1
- Confirmation of a clinical diagnosis
- To differentiate between the disorders of the Noonan syndrome spectrum
- Recurrence risk
- Next-Gen Sequencing
Ordering
534
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs
Billing
81442x1
Yes
Yes
- 759.8 Other specified anomalies
- 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
* For price inquiries please email zebras@genedx.com
References
- Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
- Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
- Schubbert et al., Nature Genetics 38:331-336, 2006
- Carta C et al. Am J Hum Genet 79:129-135, 2006
- Roberts et al. Nat Genet 39:70-4, 2007
- Tartaglia et al. Nat Genet. 39:75-9, 2007
- Pandit B et al. Nat Genet. 39: 1007-12, 2007
- Razzaque MA et al. Nat Genet. 39:1013-17, 2007
- Rodriguez- Viciana, et al. Science 311:1287-90, 2006
- Niihori, et al. Nature Genetics. 38: 294-296, 2006
- Narumi et al. Am J Med Genet, 143:799-809, 2007
- Aoki Y et al. Nat Genet. 37:1038-40, 2005
- Costello JM. Am J Med Genet. 62:199-201, 1996
- Estep AL et al. Am J Med Genet A. 140:8-16, 2006
- Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
- Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
- Kerr B et al. J Med Genet. 43:401-5, 2006
- Lin AE et al. Am J Med Genet. 111:115-29, 2002
- White SM. Am J Med Genet A. 136:128-35, 2005
- Cordeddu Nat Genet 41:1022-1026, 2009
- Clayton-Smith et al. (2011) Am J Hum Genet 89(5):675-681
- Campeau et al. (2012) Am J Hum Genet 90:282-289
- Simpson et al. (2012) Am J Hum Genet 90:290-294