Chromosomal SNP Microarry
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000597295.1
Last updated in GTR: 2022-01-19
Last annual review date for the lab: 2023-01-20 Past due LinkOut
At a Glance
Developmental delay; Autism spectrum disorder; Developmental delay with autism spectrum disorder and gait instability; ...
11p15; 12p; 13q14.2; 15q11-q13; 15q13.3; ...
Molecular Genetics - Detection of homozygosity: Microarray
Generally pediatric
Not provided
Not provided
Ordering Information
Offered by: Help
Cytogenetics Laboratory
View lab's website
Test short name: Help
Manufacturer's name: Help
Cytoscan HD
Specimen Source: Help
  • Amniotic fluid
  • Bone marrow
  • Cell culture
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • Urine
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
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
Complete and submit a Cytogenetics test requistion and patient informed consent.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
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: 8
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 23
Chromosomal region/Mitochondrion Associated condition
Total methods: 1
Method Category Help
Test method Help
Detection of homozygosity
Affymetrix GeneChip Scanner 3000 7G Whole-Genome Association System
Clinical Information
Test purpose: Help
Target population: Help
Generally pediatric
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Platform:
Affymetrix CytoScan HD Array
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendment of 1998 ("CLIA") as qualified to perform high complexity clinical testing.
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
Not provided
NYS CLEP Approval: Help
Number: 35809
Status: Approved
Additional Information

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.