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Pathology and Laboratory Medicine
Cytogenetics and Related Medical Genetics Essentials

​Cytogenetics and Related Medical Genetics Essentials Ordering Approvals

Neonatologists/Pediatricians covering the NICU

RUH Cytogenetics Lab Tests

  • Array CGH
    • Indications for Array CGH include:
      • Idiopathic intellectual disability/developmental delay
      • Autism
      • Multiple congenital abnormalities
      • Apparently balanced inherited or de novo rearrangements in a phenotypically abnormal individual
      • For further information, refer to the CCMG Guidelines for Genomic Microarray Testing
  • For RUH Cytogenetics Lab Tests, use this requisition 
    • For information on how to complete this requisition, please see the completion aid

Additional Lab Tests

  • Fragile X (FRAXA)
  • Rett (MECP2)
  • Beckwith-Weidmann (methylation, UPD at 11p15)
  • Russel-Silver (copy number, methylation, microsatellite markers at 7p14p11.1 and 7q32***parental DNA samples are also required for uniparental disomy studies***)
  • Prader-Willi (copy number, methylation, UPD-15/PWSCR microsatellites)
  • Angelman (copy number, methylation, UPD-15/ASCR microsatellites)
  • Myotonic Dystrophy Type 1 (DMPK)
  • Spinal Muscular Atrophy (SMN1)
Last Modified: Friday, October 26, 2018 |
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