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Alpha Globin Gene Sequencing
Clinical Genetic Test
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offered by
UCSF Molecular Diagnostics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000529069.3
HEMATOLOGYINHERITED DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-10-22
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Last annual review date for the lab: 2022-10-27 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (4): Help
alpha Thalassemia; Hemoglobin Bart hydrops syndrome; Hemoglobin H disease; ...
Genes (2): Help
HBA1 (16p13.3), HBA2 (16p13.3)
Methods (1): Help
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: 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
Test short name: Help
AGSQ
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
AGSQ
View other test codes
LOINC codes: Help
**LOINC codes notice
Lab contact: Help
Farid Chehab, PhD, MB(ASCP), Lab Director
farid.chehab@ucsf.edu
415-476-0310
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
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Test strategy: Help
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: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 4
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 *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Target population: Help
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: Help
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 … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity 99%
Assay limitations: Help
Entire gene deletion cannot be detected by Sanger sequencing
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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: Help
Category: FDA exercises enforcement discretion
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.