GTR Test Accession:
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GTR000327560.2
Last updated in GTR: 2013-12-17
View version history
GTR000327560.2, last updated: 2013-12-17
GTR000327560.1, last updated: 2013-12-17
Last annual review date for the lab: 2023-12-11
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment; ...
Conditions (1):
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beta Thalassemia
Genes (1):
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HBB (11p15.4)
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
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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Test short name:
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HBB
Specimen Source:
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- Amniotic fluid
- Chorionic villi
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- View specimen requirements
Test Order Code:
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HBB, Beta-Thalassemia
Contact Policy:
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Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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EDTA-blood, DNA, other peripheral whole blood samples (not frozen). Other specimen after consultation.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Result interpretation
Genetic counseling
Result interpretation
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Yes
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:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| 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
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment;
Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Identified variants are documented in-house and are comprehensively evaluated using mutation databases and literature by scientific and medical directors.
Identified variants are documented in-house and are comprehensively evaluated using mutation databases and literature by scientific and medical directors.
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,
Target population,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
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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Stepwise approach: 1.) Sequencing of the entire coding regions and flanking non-coding sequences. 2.) MLPA for deletion/duplication analysis.
Test Platform:
None/not applicable
Test Comments:
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Biochemical testing is also available.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity and specificity >99%.
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
RCPA, Royal College of Pathologists of Australasia
Description of PT method: Help
In addition to the annually formal PT program (RCPA, Royal College of Pathologists of Australasia) inter-laboratory quality assurance is performed.
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
RCPA, Royal College of Pathologists of Australasia
Description of PT method: Help
In addition to the annually formal PT program (RCPA, Royal College of Pathologists of Australasia) inter-laboratory quality assurance is performed.
VUS:
Software used to interpret novel variations
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A collection of bioinformatic tools.
Laboratory's policy on reporting novel variations Help
Novel variations are evaluated and reported if suspected relevant.
A collection of bioinformatic tools.
Laboratory's policy on reporting novel variations Help
Novel variations are evaluated and reported if suspected relevant.
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.