Classic view of this page
Alpha Thalassemia Deletions
Clinical Genetic Test
Help
offered by
UCSF Molecular Diagnostics Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000500318.2
INHERITED DISEASEHEMATOLOGYDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-10-22
View version history
Last annual review date for the lab: 2022-10-27 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (3): Help
Alpha trait thalassemia; Hemoglobin Bart hydrops syndrome; Hemoglobin H disease
Genes (2): Help
HBA1 (16p13.3); HBA2 (16p13.3)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: PCR with deletion specific primers
Target population: Help
Asians, African-Americans, Mediterraneans
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
UCSF Molecular Diagnostics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
Test Order Code: Help
ATHL
View other test codes
LOINC codes: Help
**LOINC codes notice
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Order URL
Informed consent required: Help
No
Test strategy: Help
Point mutation analysis for hemoglobin Constant Spring, hemoglobin Pakse and hemoglobin Quong Sze is also available (see separate alpha thalassemia point mutations assay).
For all genetic testing, the patient should be informed of the test limitations and benefits. Adequate genetic counseling should be offered, and written informed consent should be … View more
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test development
Conditions Help
Total conditions: 3
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
PCR with deletion specific primers
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Target population: Help
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? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
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: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This assay is 99% sensitive at detecting the different types of alpha-globin gene deletions.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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: Help
Not provided
Additional Information
Consumer 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.