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Carrier Screening - Alpha Thalassemia (HBA1/2)
Clinical Genetic Test
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offered by
Genesys Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000607971.1
CAP
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2023-08-15
View version history
Last annual review date for the lab: 2023-08-03 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (2): Help
alpha Thalassemia; Hemoglobin H disease
Genes (2): Help
HBA1 (16p13.3), HBA2 (16p13.3)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Patients who are considering reproduction (carrier screening), are suspected of …
Clinical validity: Help
Not provided
Clinical utility: Help
Reproductive decision-making
Ordering Information
Offered by: Help
Genesys Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Nurse Practitioner
Test Order Code: Help
CSAT
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Reproductive decision-making
View citations (1)
  • Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, . Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(10):1793-1806. doi:10.1038/s41436-021-01203-z. Epub 2021 Jul 20. PMID: 34285390.

Target population: Help
Patients who are considering reproduction (carrier screening), are suspected of hemoglobinopathies such as alpha thalassemia or alpha thalassemia minor, or with a family history of alpha-thalassemia or alpha-thalassemia minor.
Recommended fields not provided:
Clinical validity, 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
Analytical Validity: Help
The GDI Alpha Thalassemia Assay uses MLPA to determine the copy number of the alpha-globin gene cluster and its flanking region, as well as detect the Hb constant spring mutation in HBA2. The assay was validated by Genesys Diagnostics with a sensitivity of 100% and specificity of 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

CAP Testing Information (legacy) Help
CAP/ACMG Hemoglobinopathies Genotyping; Alpha-thalassemia; HGM
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.