Run 2x per week, Tuesday & Thursday, day shift only
Methodology
PCR followed by reverse dot blot hybridization with allele-specific probes
Reported
7-10 days
Additional Information
DNA testing for beta thalassemia mutations is valuable for confirming hematological suspicion of beta-thalassemia (e.g. anemia, low MCV, elevated Hgb A2), for co-existence with iron deficiency and when prenatal diagnosis is contemplated. Iron studies, may also be of value. Include results of these tests with the thalassemia request or indicate if they were ordered at UCSF.
If a mutation is detected it is recommended that the patient seek genetic counseling.
These tests were developed and their performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. They have not been cleared or approved by the U.S. FDA
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
If hemoglobin electrophoresis reveals an elevated Hb A2 and the results of the BTHL test are negative, then further testing by DNA sequencing of the beta globin gene can be performed at an additional charge.
Synonyms
Cooley's anemia
Hemoglobin S
HbS, Hgb S
Hemoglobin C
HbC
Hgb C
Hemoglobin E
HbE
Hgb E
Sample Type
EDTA whole blood, Amniocentesis, 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
BTHL
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 testing for beta thalassemia mutations is valuable for confirming hematological suspicion of beta-thalassemia (e.g. anemia, low MCV, elevated Hgb A2), for co-existence with iron deficiency and when prenatal diagnosis is contemplated. Iron studies, may also be of value. Include results of these tests with the thalassemia request or indicate if they were ordered at UCSF.
If a mutation is detected it is recommended that the patient seek genetic counseling.
These tests were developed and their performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. They have not been cleared or approved by the U.S. FDA
CPT Codes
81361, 81362
LDT or Modified FDA
Yes
LOINC Codes
21691-1
Available Stat
No
Test Code
BTHL
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 2x per week, Tuesday & Thursday, day shift only
Methodology
PCR followed by reverse dot blot hybridization with allele-specific probes
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, Amniocentesis, 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
Cooley's anemia
Hemoglobin S
HbS, Hgb S
Hemoglobin C
HbC
Hgb C
Hemoglobin E
HbE
Hgb E
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
If hemoglobin electrophoresis reveals an elevated Hb A2 and the results of the BTHL test are negative, then further testing by DNA sequencing of the beta globin gene can be performed at an additional charge.
Additional Information
DNA testing for beta thalassemia mutations is valuable for confirming hematological suspicion of beta-thalassemia (e.g. anemia, low MCV, elevated Hgb A2), for co-existence with iron deficiency and when prenatal diagnosis is contemplated. Iron studies, may also be of value. Include results of these tests with the thalassemia request or indicate if they were ordered at UCSF.
If a mutation is detected it is recommended that the patient seek genetic counseling.
These tests were developed and their performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. They have not been cleared or approved by the U.S. FDA
CPT Codes
81361, 81362
LDT or Modified FDA
Yes
LOINC Codes
21691-1
Ordering
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 2x per week, Tuesday & Thursday, day shift only
Methodology
PCR followed by reverse dot blot hybridization with allele-specific probes
Reported
7-10 days
Additional Information
DNA testing for beta thalassemia mutations is valuable for confirming hematological suspicion of beta-thalassemia (e.g. anemia, low MCV, elevated Hgb A2), for co-existence with iron deficiency and when prenatal diagnosis is contemplated. Iron studies, may also be of value. Include results of these tests with the thalassemia request or indicate if they were ordered at UCSF.
If a mutation is detected it is recommended that the patient seek genetic counseling.
These tests were developed and their performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. They have not been cleared or approved by the U.S. FDA
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
If hemoglobin electrophoresis reveals an elevated Hb A2 and the results of the BTHL test are negative, then further testing by DNA sequencing of the beta globin gene can be performed at an additional charge.
Synonyms
Cooley's anemia
Hemoglobin S
HbS, Hgb S
Hemoglobin C
HbC
Hgb C
Hemoglobin E
HbE
Hgb E
Collection
Sample Type
EDTA whole blood, Amniocentesis, 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
BTHL
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 testing for beta thalassemia mutations is valuable for confirming hematological suspicion of beta-thalassemia (e.g. anemia, low MCV, elevated Hgb A2), for co-existence with iron deficiency and when prenatal diagnosis is contemplated. Iron studies, may also be of value. Include results of these tests with the thalassemia request or indicate if they were ordered at UCSF.
If a mutation is detected it is recommended that the patient seek genetic counseling.
These tests were developed and their performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. They have not been cleared or approved by the U.S. FDA
Administrative
CPT Codes
81361, 81362
LDT or Modified FDA
Yes
LOINC Codes
21691-1
Complete View
Available Stat
No
Test Code
BTHL
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 2x per week, Tuesday & Thursday, day shift only
Methodology
PCR followed by reverse dot blot hybridization with allele-specific probes
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, Amniocentesis, 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
Cooley's anemia
Hemoglobin S
HbS, Hgb S
Hemoglobin C
HbC
Hgb C
Hemoglobin E
HbE
Hgb E
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
If hemoglobin electrophoresis reveals an elevated Hb A2 and the results of the BTHL test are negative, then further testing by DNA sequencing of the beta globin gene can be performed at an additional charge.
Additional Information
DNA testing for beta thalassemia mutations is valuable for confirming hematological suspicion of beta-thalassemia (e.g. anemia, low MCV, elevated Hgb A2), for co-existence with iron deficiency and when prenatal diagnosis is contemplated. Iron studies, may also be of value. Include results of these tests with the thalassemia request or indicate if they were ordered at UCSF.
If a mutation is detected it is recommended that the patient seek genetic counseling.
These tests were developed and their performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. They have not been cleared or approved by the U.S. FDA
