GTR Test Accession:
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GTR000569590.2
Last updated in GTR: 2022-10-11
View version history
GTR000569590.2, last updated: 2022-10-11
GTR000569590.1, last updated: 2021-10-12
Last annual review date for the lab: 2023-10-10
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At a Glance
Test purpose:
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Diagnosis;
Screening
Conditions (62):
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Partial deletion of the short arm of chromosome 1;
22q partial monosomy;
5p partial monosomy syndrome
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Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Microarray; SNP Detection
Target population: Help
Invitae Chromosomal Microarray Analysis is a high-resolution SNP-based microarray that …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
How to Order:
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Tests can be ordered by submitting a paper requisition form.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
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Decline to answer
Test strategy:
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Extracted DNA is evaluated using >1,700,000 SNP markers to assess for a variety of chromosomal abnormalities.
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Contact policy,
Test development
Conditions
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Total conditions: 62
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 25
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Microarray
Deletion/duplication analysis
SNP Detection
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Screening
Target population:
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Invitae Chromosomal Microarray Analysis is a high-resolution SNP-based microarray that can identify a variety of chromosomal abnormalities, including: whole chromosome aneuploidies, microdeletions, microduplications, regions of homozygosity, and uniparental isodisomy (isoUPD). This test is geared for parents or family members of a proband with a copy number variation.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Invitae’s variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae’s database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more
Invitae’s variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae’s database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
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
Test Procedure:
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Extracted DNA is evaluated using >1,700,000 SNP markers to assess for a variety of chromosomal abnormalities.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Invitae Chromosomal Microarray Analysis is performed using a custom-designed Illumina single nucleotide polymorphism (SNP) array. This array contains > 1,700,000 SNP markers covering both coding and non-coding human genome sequences. The median spatial resolution between probes is 1.8 Kb. Extracted DNA is evaluated for copy number changes involving ≥ 16 …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
VUS:
Laboratory's policy on reporting novel variations
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Novel variations are described in our clinical report to the ordering clinician. The report documents the evidence and logic supporting the interpretation of any novel variations. Reports are available through a secure online portal or via fax.
Novel variations are described in our clinical report to the ordering clinician. The report documents the evidence and logic supporting the interpretation of any novel variations. Reports are available through a secure online portal or via fax.
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Reviews:
Clinical resources:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.