SNP Microarray
GTR Test Accession: Help GTR000295241.2
NERVOUS SYSTEMPSYCHIATRIC
Last updated in GTR: 2015-12-10
Last annual review date for the lab: 2023-07-31 LinkOut
At a Glance
Diagnosis
Intellectual disability; Autism spectrum disorder; Global developmental delay; ...
Molecular Genetics - Detection of homozygosity: SNP Detection
developmental delay, intellectual disability, autism spectrum disorders, congenital anomalies, dysmorphic …
Not provided
Not provided
Ordering Information
Offered by: Help
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
SNP microarray
Manufacturer's name: Help
Illumina
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Chorionic villi
  • Cord blood
  • Cystic hygroma fluid
  • Fetal blood
  • Fibroblasts
  • Isolated DNA
  • Product of conception (POC)
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Health Care Provider
  • In-State Patients
  • Out-of-State Patients
Test Order Code: Help
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
Print test requisition, fill out and send with the sample - 3 mLs whole blood in EDTA and 3 mLs whole blood in NaHep
Order URL
Test service: Help
Custom Deletion/Duplication Testing
Marker Chromosome Identification
Informed consent required: Help
Decline to answer
Test strategy: Help
Available as a refelx test after normal chromosome analysis
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: 4
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Detection of homozygosity
SNP Detection
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
developmental delay, intellectual disability, autism spectrum disorders, congenital anomalies, dysmorphic features
View citations (1)
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Manning M, et al. Genet Med. 2010;12(11):742-5. doi:10.1097/GIM.0b013e3181f8baad. PMID: 20962661.
Sample reports:
Sample Positive Report Help
Revised report requested by NCBI

Sample VUS Report Help
Revised report requested by NCBI
Recommended fields not provided:
Technical Information
Test Comments: Help
SNP microarray can detect both copy number variation and regions of homozygosity, which can unmask recessive disorders or those due to parental imprinting.
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
Validity percent meets CAP requirements. More information available upon request.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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