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Chromosome Analysis (High Resolution), Peripheral Blood
Clinical Genetic Test
Help
offered by
Institute for Genomic Medicine (IGM) Clinical Laboratory
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GTR Test Accession: Help GTR000593804.4
CAP
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-08-24
View version history
Last annual review date for the lab: 2023-07-14 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (323): Help
Congenital chromosomal disease; 10q partial trisomy syndrome; 11q partial monosomy syndrome; ...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Cytogenetics - Karyotyping: G-banding
Target population: Help
Individuals with suspected aneuploidy or other numerical/structural chromosomal abnormality. Newborns …
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
Test short name: Help
Blood chromosome analysis, blood karyotyping
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
PBCS
View other test codes
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 service: Help
Custom Balanced Chromosome Rearrangement Studies
    Comment: Additional charges apply
Custom Deletion/Duplication Testing
    Comment: Additional charges apply
Mosaicism Study (Extended Cell Count, 50-Cell Study)
    Comment: Additional charges apply
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
Reflex to microarray analysis available
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test
Conditions Help
Total conditions: 323
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 *
Karyotyping
G-banding
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Target population: Help
Individuals with suspected aneuploidy or other numerical/structural chromosomal abnormality. Newborns with ambiguous genitalia. Individuals with family history of structural chromosome rearrangement, such as a reciprocal translocation, Robertsonian translocation, and pericentric inversion. Individuals with history of recurrent pregnancy loss.
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:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, 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
Minimal band resolution is 550 bands. This test analyzes 20 metaphase cells to identify numerical and structural chromosome abnormalities and can detect mosaicism down to 20% of cells at 95th confidence interval. Mosaicism study (50-cell extended cell count evaluation) available, which can detect mosaicism down to 6% of cells at … 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
Recommended fields not provided:
Test Confirmation, 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.