GTR Test Accession:
Help
GTR000592951.3
NYS CLEP
Last updated in GTR:
2024-11-15
View version history
GTR000592951.3,
last updated:
2024-11-15
GTR000592951.2,
last updated:
2022-10-25
GTR000592951.1,
registered in GTR:
2022-06-09
Last annual review date for the lab: 2024-11-15
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
Prognostic; ...
Conditions (80):
Help
Glanzmann thrombasthenia;
Acquired hypoprothrombinemia;
Alpha-2-plasmin inhibitor deficiency
more...
Genes (66):
Help
Methods (2):
Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Amniocytes
- Amniotic fluid
- Bone marrow
- Buccal swab
- Cell culture
- Cord blood
- Fetal blood
- Isolated DNA
- Peripheral (whole) blood
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
Help
Lab contact:
Help
Stefanie Dugan, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
(414) 937-6126
[email protected]
(414) 937-6126
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
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
Based on applicable state law
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions
Help
Total conditions: 80
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
Help
Total genes: 66
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
Help
Test method
Help
Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
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:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
Analytical sensitivity is >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Alternative Assessment
Yes
Method used for proficiency testing: Help
Alternative Assessment
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:
Help
Not provided
NYS CLEP Approval:
Help
Number:
68479
Status: Approved
Status: Approved
Additional Information
Reviews:
Clinical resources:
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.