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SNP Microarray Analysis (Chromosomal Microarray)
Clinical Genetic Test
Help
offered by
Institute for Genomic Medicine (IGM) Clinical Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000593864.2
CAP
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2023-04-19
View version history
Last annual review date for the lab: 2023-07-14 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (452): Help
Congenital chromosomal disease; 10q partial trisomy syndrome; 10q22.3q23.3 microduplication syndrome; ...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Target population: Help
Individuals with multiple congenital anomalies, developmental delay, intellectual disability, autism, …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Institute for Genomic Medicine (IGM) Clinical Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Bone marrow
  • Cord blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
SNPMA
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 452
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Microarray
Detection of homozygosity
Microarray
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals with multiple congenital anomalies, developmental delay, intellectual disability, autism, and/or dysmorphic features. Individuals who are being evaluated for chromosomal microdeletions and microduplications. Individuals whose parents are consanguineous and assessment is desired to identify degree and regions of genomic homozygosity.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
VUS and novel variants will be interpreted by trained lab team member and a lab director using current medical literature and databases

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. No systemic re-evaluation of previously reported variants/findings are currently performed. However, if the same variant/finding is identified in another patient and current assessment results in change in variant classification/interpretation, then the laboratory will recontact the ordering provider and issue an updated report.
Recommended fields not provided:
Clinical validity, Clinical utility, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For known recurrent microdeletion/microduplication regions and regions with sufficient probe coverage, this assay will detect the genomic loss or gain of that region with >95% sensitivity and specificity. The sensitivity, specificity, and accuracy/precision of this assay is dependent upon the quality of the input DNA. Highly degraded DNA and contaminated … View more
Assay limitations: Help
This analysis will not detect balanced rearrangements including inversions, reciprocal translocations, Robertsonian translocations, and insertions. Uniparental heterodisomy and other imprinting defects or alterations are not detected by this test. This assay is not designed to reliably detect low-level mosaicism or genomic imbalances less than approximately 100 kb in size. DNA … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP
VUS:
Laboratory's policy on reporting novel variations Help
Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.