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.
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed. Day shift only
Methodology
PCR and DNA sequencing
Additional Information
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.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
Alpha thalasseia trait
Hb H Disease
HgbH disease
Hgb H disease
Hemoglobin H disease
Sample Type
EDTA whole blood
Amniotic fluid
Cultured amniocytes or Chorionic villi
Collect
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
Preferred Volume
Blood: 5 mL
Amniotic fluid: 20 mL
Chorionic villi: 20 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x2
Minimum Volume
Blood: 2 mL
Amniotic fluid: 10 mL
Chorionic villi: 10 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x1
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Test Code
AGSQ
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Preferred Volume
Blood: 5 mL
Amniotic fluid: 20 mL
Chorionic villi: 20 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x2
Minimum Volume
Blood: 2 mL
Amniotic fluid: 10 mL
Chorionic villi: 10 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x1
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Reference Interval
Negative: No mutations detected
Additional Information
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.
CPT Codes
81259
LDT or Modified FDA
Yes
LOINC Codes
21687-9
Available Stat
No
Ordering Recommendations
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
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed. Day shift only
Methodology
PCR and DNA sequencing
Collect
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
Minimum Volume
Blood: 2 mL
Amniotic fluid: 10 mL
Chorionic villi: 10 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x1
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Reference Interval
Negative: No mutations detected
Synonyms
Alpha thalasseia trait
Hb H Disease
HgbH disease
Hgb H disease
Hemoglobin H disease
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
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.
CPT Codes
81259
LDT or Modified FDA
Yes
LOINC Codes
21687-9
Ordering
Ordering Recommendations
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.
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed. Day shift only
Methodology
PCR and DNA sequencing
Additional Information
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.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
Alpha thalasseia trait
Hb H Disease
HgbH disease
Hgb H disease
Hemoglobin H disease
Collection
Sample Type
EDTA whole blood
Amniotic fluid
Cultured amniocytes or Chorionic villi
Collect
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
Preferred Volume
Blood: 5 mL
Amniotic fluid: 20 mL
Chorionic villi: 20 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x2
Minimum Volume
Blood: 2 mL
Amniotic fluid: 10 mL
Chorionic villi: 10 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x1
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Processing
Test Code
AGSQ
Test Group
Thalassemia
Performing Lab
Medical Genomics - Molecular Diagnostics
Preferred Volume
Blood: 5 mL
Amniotic fluid: 20 mL
Chorionic villi: 20 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x2
Minimum Volume
Blood: 2 mL
Amniotic fluid: 10 mL
Chorionic villi: 10 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x1
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Result Interpretation
Reference Interval
Negative: No mutations detected
Additional Information
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.
Administrative
CPT Codes
81259
LDT or Modified FDA
Yes
LOINC Codes
21687-9
Complete View
Available Stat
No
Ordering Recommendations
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
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1x per week as needed. Day shift only
Methodology
PCR and DNA sequencing
Collect
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
Minimum Volume
Blood: 2 mL
Amniotic fluid: 10 mL
Chorionic villi: 10 mg
?Cultured cells (Amniotic fluid or CVS): Confluent T25 flasks x1
Unacceptable Conditions
Inadequate sample. Samples collected in heparin.
Reference Interval
Negative: No mutations detected
Synonyms
Alpha thalasseia trait
Hb H Disease
HgbH disease
Hgb H disease
Hemoglobin H disease
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
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.
