Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RAI1 Gene Sequencing & Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RAI1
Disorders:
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Recurrence risk estimation
  • Prenatal diagnosis
Lab Method:

ORDERING

Test Code:
2511
Turnaround Time:
9-10 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x1, 88271x40, 88291x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 319: Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
  • 299.80: Pervasive developmental disorders
  • 758.33: Other microdeletions, Miller-Dieker syndrome, Smith-Magenis syndrome
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Nakamine, A. et al., Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet. 146A(5):636-643, 2008
  2. Dr. Sarah Elsea, personal communication, 2005
  3. Girirajan, S. et al., RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 42: 820-28, 2005
  4. Bi, W. et al., Mutations of RAI1, a PHD-containing protein, in non-deletion patients with Smith-Magenis syndrome. Hum Genet. 115: 515-24, 2004
  5. Slager, R.et al., Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 33: 466-68 2003
  6. Girirajan, S. et al., Genotype-phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med. 8: 417-27, 2006

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