GTR Test Accession:
Help
GTR000596286.3
CAP
Last updated in GTR: 2023-09-06
View version history
GTR000596286.3, last updated: 2023-09-06
GTR000596286.2, last updated: 2022-09-27
GTR000596286.1, last updated: 2021-10-02
Last annual review date for the lab: 2023-09-06
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Mutation Confirmation
Conditions (3):
Help
beta Thalassemia; Hb SS disease; Sickle cell-hemoglobin C disease
Genes (1):
Help
HBB (11p15.4)
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
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
- Chorionic villi
- Cord blood
- Fetal blood
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- View specimen requirements
Lab contact:
Help
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
Currently, samples are only accepted from residents of Canada. Please use the General Requisition form on our website.
Order URL
Order URL
Informed consent required:
Help
Decline to answer
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
Test Order Code,
Test strategy,
Test development
Conditions
Help
Total conditions: 3
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis;
Mutation Confirmation
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
This assay detects up to 97% of mutations in the beta globin gene, including the point mutations resulting in hemoglobin S, C, and E. Deletions of the beta globin gene and deletions of the beta globin gene cluster would not be detected by this assay, as well as some rarer …
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
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,
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
Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.