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RSK2 (RPS6KA3) Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RSK2 (RPS6KA3)
Disorders:
Clinical Utility:
  • 1. Confirmation of the clinical diagnosis
  • 2. Carrier testing in female relatives
  • 3. Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 755.1: Syndactyly Symphalangy Webbing of digits
  • 754.81: Pectus excavatum Congenital funnel chest
  • 737.4: Curvature of spine associated with other conditions Code first associated condition, as: Charcot-Marie-Tooth disease (356.1), mucopolysaccharidosis (277.5), neurofibromatosis (237.7), osteitis deformans (731.0), osteitis fibrosa cystica (252.01), osteoporosis (733.00-733.09), poliomyelitis (138), tuberculosis [Pott's curvature] (015.0)
  • 754.82: Pectus carinatum Congenital pigeon chest [breast]
  • 318: Moderate mental retardation IQ 35-49, Moderate mental subnormality
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REFERENCES

  1. Delaunoy et al., (2001) Hum Mutat 17:103-116
  2. Delaunoy et al., (2006) Clin Genet 70:161-166
  3. Zeniou et al., (2002) Am J Hum Genet. 70:1421-1433
  4. Hanauer et al., (2002) J Med Genet. 39: 705-713, 2002

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