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SNP microarray (Reveal)
Clinical Genetic Test
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offered by
Clinical Cytogenetics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000020305.7
CAP
NERVOUS SYSTEMINHERITED DISEASEPSYCHIATRIC ... View more
Last updated in GTR: 2024-01-09
View version history
Last annual review date for the lab: 2024-01-08 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (3): Help
Global developmental delay; Autism; Multiple congenital anomalies
Chromosomal regions/ Mitochondria (1): Help
GRCh37/hg19
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: SNP Detection; ...
Target population: Help
Children and adults with developmental delay/intellectual disability/autism/dysmorphic features/congenital anomalies of …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Clinical Cytogenetics Laboratory
View lab's website
View lab's test page
Test short name: Help
microarray
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

Copyright: 2023 American Medical Association. All rights reserved.

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.

https://www.integratedgenetics.com/providers/tests/diagnostic/reveal https://www.labcorp.com/test-menu/search
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:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
SNP Detection
Other
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:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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
Yes

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:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.