GTR Test Accession:
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GTR000529069.3
Last updated in GTR:
2021-10-22
View version history
GTR000529069.3,
last updated:
2021-10-22
GTR000529069.2,
last updated:
2020-10-20
GTR000529069.1,
registered in GTR:
2015-12-28
Last annual review date for the lab: 2022-10-27
Past due
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (4):
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Genes (2):
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HBA1 (16p13.3);
HBA2 (16p13.3)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequencing
Target population: Help
Individuals with suspected alpha thalassemia and negative gene deletion screening …
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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AGSQ
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Cell culture
- Chorionic villi
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
Test Order Code:
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LOINC codes:
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Lab contact:
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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 development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Decline to answer
Test strategy:
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This test should be ordered in patients clinically suspected of having alpha thalassemia but where alpha Thalassemia Deletion (ATHL) testing has failed to identify a genetic lesion.
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Conditions
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Total conditions: 4
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 2
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequencing
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Target population:
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Individuals with suspected alpha thalassemia and negative gene deletion screening assays.
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
Test Comments:
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The most common types of mutations in alpha thalassemia are large deletions that encompass the alpha1, alpha2 or both alpha-globin genes. If the common alpha globin deletions assay is negative and suspicion for alpha thalassemia remains elevated (e.g. low MCV, confounding presence of iron deficiency, low percentage of Hb S …
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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%
Assay limitations:
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Entire gene deletion cannot be detected by Sanger sequencing
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation,
Citations to support 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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Category:
FDA exercises enforcement discretion
Additional Information
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.