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Alpha-globin Gene Sequencing (New test)

Item Value
Approval req'd? No
Available Stat? No
Utilization Guidelines This is not a first line test. It should only be ordered in patients clinically suspected of having Alpha thalassemia but where Alpha Thalassemia Deletion (ATHL) testing failed to identify a genetic lesion
Test code AGSQ
Test group Thalassemia
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Run 1x per week as needed. Day shift only
Method PCR and DNA sequencing
Collection Instructions For UCSF Samples (from remote sites) Click here for sample collection instructions

For NON-UCSF Samples Click here for Requisition form & Account set-up instructions. Note we only do institutional billing.
Container type Lavender top
Conical tube
T25 cell culture flask
Amount to Collect
Blood 5 mL
Amniotic fluid 20 mL
Chorionic villi 20 mg
Cultured cells (Amniotic fluid or CVS) Confluent T25 flasks x2
Sample type EDTA whole blood
Amniotic fluid
Cultured amniocytes or Chorionic villi
Preferred volume
Blood 5 mL
Amniotic fluid 20 mL
Chorionic villi 20 mg
Cultured cells (Amniotic fluid or CVS) Confluent T25 flasks x2
Min. Volume
Blood 2 mL
Amniotic fluid 10 mL
Chorionic villi 10 mg
Cultured cells (Amniotic fluid or CVS) Confluent T25 flask x1
UCSF Rejection Criteria Inadequate sample. Samples collected in heparin.
Normal range Negative: No mutations detected
Synonyms Alpha thalasseia trait; Hb H Disease; HgbH disease; Hgb H disease; Hemoglobin H disease
Additional information An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

The most common types of mutations in alpha thalassemia are large deletions that encompass the alpha1, alpha2 or both alpha-globin genes (see Alpha Thalassemia mutations assay). 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 in sickle-cell trait, heterozygous beta thalassemia, Hb H disease with a two-alpha globin gene deletion), then it is possible that a non-deletion type of alpha thalassemia could be present. This assay will determine the DNA sequence of both alpha1 and alpha2 globin genes and detect the presence of point mutations that result in alpha thalassemia. This assay is also useful in uncovering the nature of hemoglobin alpha chain variants that may not be resolved by routine hemoglobin electrophoresis and/or HPLC.

If a mutation is detected it is recommended that the patient seek genetic counseling.

Note: This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.

Click here for more information on Alpha Thalassemia mutations [ATHL]

CPT coding 81405
LOINC code 21687-9
LDT or Mod FDA? Yes
Last Updated 9/9/2015 3:34:28 PM
Entry Number 1664
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