Run 1x per week as needed, Monday or Wednesday, day shift only
Methodology
PCR followed by DNA sequencing
Reported
7-10 days
Additional Information
DNA sequencing of the beta-globin gene is suggested only when testing with the allele-specific probes for beta thalassemia is negative and when Hb A2 levels are elevated or a variant hemoglobin identified by HPLC testing cannot be confirmed by conventional methods. It is also possible that the presence of iron deficiency may confound the Hb A2 levels, and thus DNA sequencing may be warranted if the beta thalassemia mutations test is negative. SEE NOTES: On Thalassemia Mutations Test.
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.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
PCR
Sample Type
EDTA whole blood, Amniotic fluid, CVS
Collect
Lavender top
Amount to Collect
3 mL blood
Preferred Volume
Blood: 3 mL
Amniotic Fluid: 5 mL
CVS: 10 mg
Minimum Volume
0.5 mL blood
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Test Code
BGSQ
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Preferred Volume
Blood: 3 mL
Amniotic Fluid: 5 mL
CVS: 10 mg
Minimum Volume
0.5 mL blood
Reference Interval
Negative
Additional Information
DNA sequencing of the beta-globin gene is suggested only when testing with the allele-specific probes for beta thalassemia is negative and when Hb A2 levels are elevated or a variant hemoglobin identified by HPLC testing cannot be confirmed by conventional methods. It is also possible that the presence of iron deficiency may confound the Hb A2 levels, and thus DNA sequencing may be warranted if the beta thalassemia mutations test is negative. SEE NOTES: On Thalassemia Mutations Test.
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.
CPT Codes
81364
LDT or Modified FDA
Yes
LOINC Codes
21689-5
Available Stat
No
Test Code
BGSQ
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed, Monday or Wednesday, day shift only
Methodology
PCR followed by DNA sequencing
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top
Amount to Collect
3 mL blood
Sample Type
EDTA whole blood, Amniotic fluid, CVS
Preferred Volume
Blood: 3 mL
Amniotic Fluid: 5 mL
CVS: 10 mg
Minimum Volume
0.5 mL blood
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
Negative
Synonyms
PCR
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
DNA sequencing of the beta-globin gene is suggested only when testing with the allele-specific probes for beta thalassemia is negative and when Hb A2 levels are elevated or a variant hemoglobin identified by HPLC testing cannot be confirmed by conventional methods. It is also possible that the presence of iron deficiency may confound the Hb A2 levels, and thus DNA sequencing may be warranted if the beta thalassemia mutations test is negative. SEE NOTES: On Thalassemia Mutations Test.
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.
CPT Codes
81364
LDT or Modified FDA
Yes
LOINC Codes
21689-5
Ordering
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed, Monday or Wednesday, day shift only
Methodology
PCR followed by DNA sequencing
Reported
7-10 days
Additional Information
DNA sequencing of the beta-globin gene is suggested only when testing with the allele-specific probes for beta thalassemia is negative and when Hb A2 levels are elevated or a variant hemoglobin identified by HPLC testing cannot be confirmed by conventional methods. It is also possible that the presence of iron deficiency may confound the Hb A2 levels, and thus DNA sequencing may be warranted if the beta thalassemia mutations test is negative. SEE NOTES: On Thalassemia Mutations Test.
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.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
PCR
Collection
Sample Type
EDTA whole blood, Amniotic fluid, CVS
Collect
Lavender top
Amount to Collect
3 mL blood
Preferred Volume
Blood: 3 mL
Amniotic Fluid: 5 mL
CVS: 10 mg
Minimum Volume
0.5 mL blood
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Processing
Test Code
BGSQ
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Preferred Volume
Blood: 3 mL
Amniotic Fluid: 5 mL
CVS: 10 mg
Minimum Volume
0.5 mL blood
Result Interpretation
Reference Interval
Negative
Additional Information
DNA sequencing of the beta-globin gene is suggested only when testing with the allele-specific probes for beta thalassemia is negative and when Hb A2 levels are elevated or a variant hemoglobin identified by HPLC testing cannot be confirmed by conventional methods. It is also possible that the presence of iron deficiency may confound the Hb A2 levels, and thus DNA sequencing may be warranted if the beta thalassemia mutations test is negative. SEE NOTES: On Thalassemia Mutations Test.
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.
Administrative
CPT Codes
81364
LDT or Modified FDA
Yes
LOINC Codes
21689-5
Complete View
Available Stat
No
Test Code
BGSQ
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed, Monday or Wednesday, day shift only
Methodology
PCR followed by DNA sequencing
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top
Amount to Collect
3 mL blood
Sample Type
EDTA whole blood, Amniotic fluid, CVS
Preferred Volume
Blood: 3 mL
Amniotic Fluid: 5 mL
CVS: 10 mg
Minimum Volume
0.5 mL blood
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
Negative
Synonyms
PCR
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
DNA sequencing of the beta-globin gene is suggested only when testing with the allele-specific probes for beta thalassemia is negative and when Hb A2 levels are elevated or a variant hemoglobin identified by HPLC testing cannot be confirmed by conventional methods. It is also possible that the presence of iron deficiency may confound the Hb A2 levels, and thus DNA sequencing may be warranted if the beta thalassemia mutations test is negative. SEE NOTES: On Thalassemia Mutations Test.
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.
