Run 1x per week as needed, Tuesday or Thursday, day shift only
Methodology
PCR followed by gel electrophoresis
Reported
7-10 days
Additional Information
This assay will test for the presence or absence of 3 deletions in the beta globin gene. These deletions are predominantly found in Asian Indians, African-Americans and Filipinos. Testing for the 3 deletions in the beta globin gene is recommended when DNA testing for the common point mutations is negative. Thus, this test may serve as a reflex test in the event that the common point mutations test is negative or the presence of a single point mutation is not consistent with the patient's phenotype. A third tier of DNA testing for beta thalassemia is DNA sequencing, which is a separate orderable test and is recommended when the common mutations and deletion assays are negative or incompletely informative.
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
Beta thalassemia
Sample Type
EDTA whole blood, Amniotic fluid, CVS
Collect
Lavender top preferred. Blue top and Yellow top (ACD) acceptable
Amount to Collect
Blood: 3 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Preferred Volume
Blood: 3 mL
Amniotic fluid: 5 mL
?CVS: 10 mg
Minimum Volume
Blood: 0.5 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Test Code
BDEL
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
Blood: 0.5 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Reference Interval
Negative for deletions
Additional Information
This assay will test for the presence or absence of 3 deletions in the beta globin gene. These deletions are predominantly found in Asian Indians, African-Americans and Filipinos. Testing for the 3 deletions in the beta globin gene is recommended when DNA testing for the common point mutations is negative. Thus, this test may serve as a reflex test in the event that the common point mutations test is negative or the presence of a single point mutation is not consistent with the patient's phenotype. A third tier of DNA testing for beta thalassemia is DNA sequencing, which is a separate orderable test and is recommended when the common mutations and deletion assays are negative or incompletely informative.
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
81363
LDT or Modified FDA
Yes
Available Stat
No
Test Code
BDEL
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed, Tuesday or Thursday, day shift only
Methodology
PCR followed by gel electrophoresis
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top preferred. Blue top and Yellow top (ACD) acceptable
Amount to Collect
Blood: 3 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Sample Type
EDTA whole blood, Amniotic fluid, CVS
Preferred Volume
Blood: 3 mL
Amniotic fluid: 5 mL
?CVS: 10 mg
Minimum Volume
Blood: 0.5 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
Negative for deletions
Synonyms
Beta thalassemia
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
This assay will test for the presence or absence of 3 deletions in the beta globin gene. These deletions are predominantly found in Asian Indians, African-Americans and Filipinos. Testing for the 3 deletions in the beta globin gene is recommended when DNA testing for the common point mutations is negative. Thus, this test may serve as a reflex test in the event that the common point mutations test is negative or the presence of a single point mutation is not consistent with the patient's phenotype. A third tier of DNA testing for beta thalassemia is DNA sequencing, which is a separate orderable test and is recommended when the common mutations and deletion assays are negative or incompletely informative.
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
81363
LDT or Modified FDA
Yes
Ordering
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed, Tuesday or Thursday, day shift only
Methodology
PCR followed by gel electrophoresis
Reported
7-10 days
Additional Information
This assay will test for the presence or absence of 3 deletions in the beta globin gene. These deletions are predominantly found in Asian Indians, African-Americans and Filipinos. Testing for the 3 deletions in the beta globin gene is recommended when DNA testing for the common point mutations is negative. Thus, this test may serve as a reflex test in the event that the common point mutations test is negative or the presence of a single point mutation is not consistent with the patient's phenotype. A third tier of DNA testing for beta thalassemia is DNA sequencing, which is a separate orderable test and is recommended when the common mutations and deletion assays are negative or incompletely informative.
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
Beta thalassemia
Collection
Sample Type
EDTA whole blood, Amniotic fluid, CVS
Collect
Lavender top preferred. Blue top and Yellow top (ACD) acceptable
Amount to Collect
Blood: 3 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Preferred Volume
Blood: 3 mL
Amniotic fluid: 5 mL
?CVS: 10 mg
Minimum Volume
Blood: 0.5 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Processing
Test Code
BDEL
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
Blood: 0.5 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Result Interpretation
Reference Interval
Negative for deletions
Additional Information
This assay will test for the presence or absence of 3 deletions in the beta globin gene. These deletions are predominantly found in Asian Indians, African-Americans and Filipinos. Testing for the 3 deletions in the beta globin gene is recommended when DNA testing for the common point mutations is negative. Thus, this test may serve as a reflex test in the event that the common point mutations test is negative or the presence of a single point mutation is not consistent with the patient's phenotype. A third tier of DNA testing for beta thalassemia is DNA sequencing, which is a separate orderable test and is recommended when the common mutations and deletion assays are negative or incompletely informative.
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
81363
LDT or Modified FDA
Yes
Complete View
Available Stat
No
Test Code
BDEL
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed, Tuesday or Thursday, day shift only
Methodology
PCR followed by gel electrophoresis
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top preferred. Blue top and Yellow top (ACD) acceptable
Amount to Collect
Blood: 3 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Sample Type
EDTA whole blood, Amniotic fluid, CVS
Preferred Volume
Blood: 3 mL
Amniotic fluid: 5 mL
?CVS: 10 mg
Minimum Volume
Blood: 0.5 mL
Amniotic fluid: 5 mL
CVS: 10 mg
Specimen Preparation
Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Reference Interval
Negative for deletions
Synonyms
Beta thalassemia
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
This assay will test for the presence or absence of 3 deletions in the beta globin gene. These deletions are predominantly found in Asian Indians, African-Americans and Filipinos. Testing for the 3 deletions in the beta globin gene is recommended when DNA testing for the common point mutations is negative. Thus, this test may serve as a reflex test in the event that the common point mutations test is negative or the presence of a single point mutation is not consistent with the patient's phenotype. A third tier of DNA testing for beta thalassemia is DNA sequencing, which is a separate orderable test and is recommended when the common mutations and deletion assays are negative or incompletely informative.
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.
