GTR Test Accession:
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GTR000500228.3
Last updated in GTR: 2021-10-22
View version history
GTR000500228.3, last updated: 2021-10-22
GTR000500228.2, last updated: 2020-10-20
GTR000500228.1, last updated: 2015-12-28
Last annual review date for the lab: 2022-10-27
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment
Conditions (1):
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Iron-refractory iron deficiency anemia
Genes (2):
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HBA1 (16p13.3);
HBA2 (16p13.3)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Bidirectional Sanger Sequencing
Target population: Help
Asians, African Americans, Mediterraneans
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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- Amniotic fluid
- 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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CPT codes:
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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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Fill out requisition form
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: ATHAL
OrderCode: ATHAL
Test additional service:
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Custom Prenatal Testing
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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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:
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: 2
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
Bidirectional Sanger Sequencing
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment
Target population:
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Asians, African Americans, Mediterraneans
View citations (3)
- Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes. Embury SH, et al. J Clin Invest. 1979;63(6):1307-10. doi:10.1172/JCI109426. PMID: 447845.
- Alpha-thalassemia in two Mediterranean populations. Pirastu M, et al. Blood. 1982;60(2):509-12. PMID: 7093530.
- alpha thalassemia in black populations. Higgs DR, et al. Johns Hopkins Med J. 1980;146(6):300-10. PMID: 7382254.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. The ordering physician will be contacted for issues on interpretation, ordering of follow-up tests or for patient clinical information.
Yes. The ordering physician will be contacted for issues on interpretation, ordering of follow-up tests or for patient clinical information.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
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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This test is 100% sensitive at detecting the seven types of deletions targeted by this assay
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
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:
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Category:
Not Applicable
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.