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CREBBP Select Exons Sequencing & Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CREBBP
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases
  • Prenatal diagnosis
Lab Method:

ORDERING

Test Code:
2921
Turnaround Time:
8-9 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1, 88271x10, 88291x1
Billing Information:
View Billing Policy
ICD Codes:
  • 759.89: Other Congenital malformation syndromes affecting multiple systems

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.

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