GTR Test Accession:
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GTR000570030.2
NYS CLEP
CAP
Last updated in GTR: 2022-10-25
View version history
GTR000570030.2, last updated: 2022-10-25
GTR000570030.1, last updated: 2022-06-09
Last annual review date for the lab: 2023-06-08
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At a Glance
Test purpose:
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Diagnosis;
Prognostic;
Risk Assessment
Conditions (60):
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Sitosterolemia with macrothrombocytopenia; ACTB-associated syndromic thrombocytopenia; ARPC1B-related thrombocytopenia; ...
Genes (63):
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ABCG5 (2p21), ABCG8 (2p21), ACTB (7p22.1), ACTN1 (14q24.1), ANKRD26 (10p12.1), ...
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Target population: Help
Not provided
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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- Amniocytes
- Amniotic fluid
- Bone marrow
- Buccal swab
- Chorionic villi
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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CPT codes:
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Lab contact:
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Stefanie Dugan, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
SDugan@Versiti.org
(414) 937-6126
SDugan@Versiti.org
(414) 937-6126
Contact Policy:
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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:
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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Result interpretation
Confirmation of research findings
Result interpretation
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
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 strategy
Conditions
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Total conditions: 60
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 63
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Prognostic;
Risk Assessment
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The analytical sensitivity of this test is >99% for single nucleotide changes and insertions and deletions of less than 20bp.
Assay limitations:
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This assay does not detect large deletions, duplications or variants that are outside the regions sequenced.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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:
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:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
68479
Status: Approved
Status: Approved
Additional Information
Reviews:
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
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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.