SNP microarray (Reveal)
GTR Test Accession: Help GTR000020305.7
Last updated in GTR: 2024-01-09
Last annual review date for the lab: 2024-01-08 LinkOut
At a Glance
Diagnosis; Risk Assessment
Global developmental delay; Autism; Multiple congenital anomalies
Molecular Genetics - Deletion/duplication analysis: SNP Detection; ...
Children and adults with developmental delay/intellectual disability/autism/dysmorphic features/congenital anomalies of …
Not provided
Not provided
Ordering Information
Offered by: Help
Clinical Cytogenetics Laboratory
View lab's website
View lab's test page
Test short name: Help
Manufacturer's name: Help
Affymetrix Ctyoscan, Affymetrix Oncoscan
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Cystic hygroma fluid
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • View specimen requirements
Who can order: Help
  • Health Care Provider
Test Order Code: Help
See laboratory test menu/requisition form
View other test codes
CPT codes: Help
**AMA CPT codes notice
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
See laboratory website for further ordering instructions. Test requirements and collection instructions vary depending on sample type and whether client is ordering testing with LabCorp or Integrated Genetics.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Result interpretation
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Total methods: 2
Method Category Help
Test method Help
Deletion/duplication analysis
SNP Detection
Detection of homozygosity
SNP Detection
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Target population: Help
Children and adults with developmental delay/intellectual disability/autism/dysmorphic features/congenital anomalies of unknown etiology Prenatal loss/miscarriage, recurrent pregnancy loss, congenital anomalies or abnormal prenatal screening result
View citations (1)
  • Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. Shaikh TH, et al. Genet Med. 2007;9(9):617-25. doi:10.1097/gim.0b013e318148bb81. PMID: 17873650.
Recommended fields not provided:
Technical Information
Test Platform:
Affymetrix CytoScan HD Array
Test Confirmation: Help
FISH or qPCR confirmation, if required
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Detects >99% for clinically significant loss of >200kb and gain of >500kb for postnatal and late gestation POC cases. Detects >99% for clinically significant loss of >1mb and gain of >2mb for prenatal cases. Detection of regions of homozygosity (ROH) >8mb in multiple chromosomes suggestive of common descent. Detection of … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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