Microarray Testing
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000520911.2
CAP
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2022-01-19
Last annual review date for the lab: 2023-01-20 Past due LinkOut
At a Glance
Diagnosis
Proximal 16p11.2 microdeletion syndrome; 13q partial monosomy syndrome; 15q11q13 microduplication syndrome; ...
Cytogenetics - Fluorescence in situ hybridization (FISH): Microarray
complete genome
Not provided
Not provided
Ordering Information
Offered by: Help
Cytogenetics Laboratory
View lab's website
Test short name: Help
CSM
Manufacturer's name: Help
Affymetrix Cytoscan HD Array System
Specimen Source: Help
Who can order: Help
  • 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
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 114
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
Fluorescence in situ hybridization (FISH)
Microarray
Affymetrix Cytoscan HD Array
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
complete genome
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No.
Recommended fields not provided:
Technical Information
Test Procedure: Help
microarray analysis
Test Platform:
Affymetrix CytoScan HD Array
Test Confirmation: Help
FISH, Karyotype
Test Comments: Help
New York State conditional validation
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100% ISCA constitutional genes, 100% cancer genes, 98% OMIM morbid genes
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
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number:
Status: Pending
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.