Chromosome Analysis, Blood w/ reflex to Postnatal ClariSure Oligo/SNP array
GTR Test Accession: Help GTR000506033.8
CAP
NERVOUS SYSTEMPSYCHIATRIC
Last updated in GTR: 2023-06-27
Last annual review date for the lab: 2024-06-28 LinkOut
At a Glance
Diagnosis
Global developmental delay; Autism spectrum disorder; Cognitive impairment more...
Cytogenetics - Karyotyping: G-banding; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's website
View lab's test page
Specimen Source: Help
  • Cord blood
  • Peripheral (whole) blood
Test Order Code: Help
Lab contact: Help
Cytogenetic Department,
949-728-4307
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.
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Karyotyping
G-banding
Deletion/duplication analysis
Microarray
Deletion/duplication analysis
SNP Detection
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Test Platform:
Affymetrix CytoScan HD Array
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical specificity and sensitivity >99% at 6-8 Mb resolution. CytoScan HD Array has greater than 99% sensitivity and can reliably detect 25-50 kb copy number changes across the genome at high specificity with SNP (Allelic) call corroboration.
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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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