Noonan-Like Syndrome

Individuals with Noonan syndrome (NS) have facial dysmorphology, which may include hypertelorism, downward slanting eyes, epicanthal folds, and low-set and posteriorly rotated ears. A variety of cardiac defects may be present, including pulmonary stenosis, patent ductus arteriosus, hypertrophic cardiomyopathy, and coarctation of the aorta. Other features include short stature, pterygium colli, short, webbed neck, deafness, motor delay, and bleeding diathesis. Lymphedema may be present prenatally. Noonan syndrome shares some clinical features with cardio-facio-cutaneous (CFC) and Costello syndrome. However, Noonan syndrome patients typically have milder cognitive deficits and fewer ectodermal problems. Individuals with this specific phenotype exhibit features consistent with Noonan syndrome as well as growth hormone deficiency, cognitive deficits, distinctive hyperactive behavior, loose anagen hair, darkly pigmented skin with eczema or scaling, and a significant overrepresentation of mitral valve and septal cardiac defects.

Tests Available

Forms and Documents

Test Details

CBL, NRAS
  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Recurrence risk
  • Next-Gen Sequencing

Ordering

535
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81479x2
No
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

  1. Cordeddu Nat Genet 41:1022-1026, 2009
  2. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  3. Kerr B et al. J Med Genet. 43:401-5, 2006
  4. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  5. White SM. Am J Med Genet A. 136:128-35, 2005
  6. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  7. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  8. Schubbert et al., Nature Genetics 38:331-336, 2006
  9. Carta C et al. Am J Hum Genet 79:129-135, 2006
  10. Roberts et al. Nat Genet 39:70-4, 2007
  11. Tartaglia et al. Nat Genet. 39:75-9, 2007
  12. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  13. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  14. Rodriguez- Viciana, et al. Science 311:1287-90, 2006
  15. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  16. Narumi et al. Am J Med Genet, 143:799-809, 2007
  17. Aoki Y et al. Nat Genet. 37:1038-40, 2005
  18. Costello JM. Am J Med Genet. 62:199-201, 1996
  19. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  20. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005

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

  1. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  2. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  3. Schubbert et al., Nature Genetics 38:331-336, 2006
  4. Carta C et al. Am J Hum Genet 79:129-135, 2006
  5. Roberts et al. Nat Genet 39:70-4, 2007
  6. Tartaglia et al. Nat Genet. 39:75-9, 2007
  7. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  8. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  9. Rodriguez- Viciana, et al. Science 311:1287-90, 2006
  10. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  11. Narumi et al. Am J Med Genet, 143:799-809, 2007
  12. Aoki Y et al. Nat Genet. 37:1038-40, 2005
  13. Costello JM. Am J Med Genet. 62:199-201, 1996
  14. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  15. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
  16. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  17. Kerr B et al. J Med Genet. 43:401-5, 2006
  18. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  19. White SM. Am J Med Genet A. 136:128-35, 2005
  20. Cordeddu Nat Genet 41:1022-1026, 2009
  21. Clayton-Smith et al. (2011) Am J Hum Genet 89(5):675-681
  22. Campeau et al. (2012) Am J Hum Genet 90:282-289
  23. Simpson et al. (2012) Am J Hum Genet 90:290-294

Forms and Documents

Test Details

PTPN11
  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Prenatal diagnosis
  • Capillary Sequencing Reflex to Exon Array

Ordering

192
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
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

  1. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  2. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  3. Schubbert et al., Nature Genetics 38:331-336, 2006
  4. Carta C et al. Am J Hum Genet 79:129-135, 2006
  5. Roberts et al. Nat Genet 39:70-4, 2007
  6. Tartaglia et al. Nat Genet. 39:75-9, 2007
  7. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  8. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  9. Rodriguez- Viciana, et al. Science 311:1287-90, 2006
  10. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  11. Narumi et al. Am J Med Genet, 143:799-809, 2007
  12. Aoki Y et al. Nat Genet. 37:1038-40, 2005
  13. Costello JM. Am J Med Genet. 62:199-201, 1996
  14. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  15. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
  16. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  17. Kerr B et al. J Med Genet. 43:401-5, 2006
  18. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  19. White SM. Am J Med Genet A. 136:128-35, 2005
  20. Cordeddu Nat Genet 41:1022-1026, 2009
  21. Sobreira NL., et al., (2010) PLoS Genet. Jun 17;6(6): e1000991
  22. Vink JR et al., (2005) Eur J Hum Genet 13:470-474.
  23. Bowen ME., et al., (2011) PLos Genet. Apr 7(4):e1002050