Chromosomal microarray
GTR Test Accession: Help GTR000508888.2
CAP
INHERITED DISEASENERVOUS SYSTEMDYSMORPHOLOGY ... View more
Last updated in GTR: 2022-06-16
Last annual review date for the lab: 2023-06-16 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Intellectual disability; 22q partial monosomy; Anomaly of sex chromosome; ...
Molecular Genetics - Deletion/duplication analysis: Microarray
Patients with a diagnosis of Autism Spectrum Disorder, Intellectual disability, …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Michigan Medical Genetics Laboratories
View lab's website
View lab's test page
Test short name: Help
SNPM1
Manufacturer's name: Help
Illumina CytoSNP 850K
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
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
Provide appropriate sample, relevant clinical information and a completed requisition form.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: SNPM1
Confirmation of research findings
    OrderCode: SNPM1
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
https://www.pathology.med.umich.edu/handbook/#/details/4760
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: 18
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
Deletion/duplication analysis
Microarray
Illumina HiScan™SQ system
Tecan Genesis Robotic Workstation 150
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Target population: Help
Patients with a diagnosis of Autism Spectrum Disorder, Intellectual disability, multiple congenital anomalies, Genomic disorders or Copy Number variations.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Follow ACMG guidelines, suggest family study

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
Yes. by Phone
Recommended fields not provided:
Technical Information
Test Procedure: Help
Using new sample
Test Platform:
Illumina Infinium HD HumanCytoSNP-850K
Test Confirmation: Help
Using new sample
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 75% Accuracy 99% Precision 99%
Assay limitations: Help
May not detect single exon deletions or duplications or CNVs that are smaller than 50-100 KB. This assay does not detect balanced genomic rearrangements.
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
VUS:
Software used to interpret novel variations Help
ISCA, DGV, HGMD

Laboratory's policy on reporting novel variations Help
Contact ordering physician by phone and by routine report; recommend clinical genetic follow up and/or genetic counseling and parental testing
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.