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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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