Rubinstein-Taybi Syndrome (RSTS)

Rubinstein-Taybi Syndrome is a congenital disorder characterized by broad thumbs and great toes, typical facies (microcephaly, small mouth, short upper and pouting lower lip, downslanting palpebral fissures, heavy eyebrows, long lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline. Patients exhibit growth retardation, psychomotor developmental delay and cognitive disability. Ocular problems (including strabismus, cataract, glaucoma), congenital heart defects, feeding problems, hemangiomas, keloid formation, finger pads, increased risk of tumors (particularly of tissues derived from the neural crest), abnormalities of the patella, and seizures are seen in varying percentage of affected individuals.

Tests Available

Forms and Documents

Test Details

CREBBP
  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases
  • Capillary Sequencing

Ordering

2922
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Thienpont B et Al., (2010) J Med Genet 47: 155-161.
  2. Gervasini C et Al., (2010) Eur J Hum Genet 18: 768-775.
  3. Sharma N et Al, (2010) J Biosci 35(2): 187-202.
  4. Schorry EK et Al., (2008) Am J Med Genet 146A: 2512-2519.
  5. Bentivegna A et Al., (2006) BMC Med Genet 7:77.
  6. Roelfsema JH et Al., (2005) Am J Hum Genet 76:572-580.
  7. Kalkhoven E et Al., (2003) Hum Mol Genet 12:441-450.

Forms and Documents

Test Details

CREBBP
  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases
  • Capillary Sequencing
  • Exon Array CGH

Ordering

2921
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81479x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Kalkhoven E et Al., (2003) Hum Mol Genet 12:441-450.
  2. Roelfsema JH et Al., (2005) Am J Hum Genet 76:572-580.
  3. Bentivegna A et Al., (2006) BMC Med Genet 7:77.
  4. Schorry EK et Al., (2008) Am J Med Genet 146A: 2512-2519.
  5. Gervasini C et Al., (2010) Eur J Hum Genet 18: 768-775.
  6. Sharma N et Al, (2010) J Biosci 35(2): 187-202.
  7. Thienpont B et Al., (2010) J Med Genet 47: 155-161.

Forms and Documents

Test Details

CREBBP
  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases
  • Capillary Sequencing
  • Exon Array CGH

Ordering

2923
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81407x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Kalkhoven E et Al., (2003) Hum Mol Genet 12:441-450.
  2. Roelfsema JH et Al., (2005) Am J Hum Genet 76:572-580.
  3. Bentivegna A et Al., (2006) BMC Med Genet 7:77.
  4. Schorry EK et Al., (2008) Am J Med Genet 146A: 2512-2519.
  5. Gervasini C et Al., (2010) Eur J Hum Genet 18: 768-775.
  6. Sharma N et Al, (2010) J Biosci 35(2): 187-202.
  7. Thienpont B et Al., (2010) J Med Genet 47: 155-161.