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26044 Alpha-Globin Gene Analysis (ATHAL)

Alpha-Globin Gene Analysis (ATHAL)
Test Code: ATHALSO
Synonyms/Keywords
​Alpha Globin
Alpha Thalassemia
Constant Spring
HBA1
Hemoglobin Bart
Hemoglobin-H Disease
Hydrops Fetalis
Saudi
Thalassemia, Alpha
Alpha-Thalassemia
HBA2
AGPB
Test Components
Alpha-Globin Gene Analysis (ATHL)

Reflex Tests 

Test ID
Reporting Name
Available Separately
Always Performed
CULAF
Amniotic Fluid Culture/Genetic Test
Yes
No
MATCC
Maternal Cell Contamination, B
Yes
No
Useful For
Diagnosis of alpha-thalassemia
Prenatal diagnosis of deletional alpha-thalassemia
Carrier screening for individuals from high-risk populations for alpha-thalassemia
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​No ​Whole Blood EDTA ​Lavendar Top Tube (LTT) ​Yellow Top Tube (ACD) ​3.0 mL ​1.0 mL
No ​Amniotic Fluid ​Sterile Container/Syringe ​20.0 mL ​10.0 mL
Collection Processing Instructions

Specimen preferred to arrive within 96 hours of draw. ​

Invert several times to mix blood.  Send specimen in original tube.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
 
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
 
Due to the complexity of prenatal testing, consultation with Mayo Clinic Laboratories is required for all prenatal testing. Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. CST on Friday at Mayo Labs in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen. Order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.
 
Specimen Stability Information
Specimen Type Temperature Time
​Whole Blood ​ ​Ambient (preferred) ​96 hours
​Refrigerate ​96 hours
​Amniotic Fluid ​ ​Refrigerate (preferred) ​96 hours
​Ambient ​96 hours
Rejection Criteria
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Interference

Hemoglobin electrophoresis should usually be done prior to this test to exclude other diagnoses or to identify nondeletion types of alpha-thalassemia.

Hemoglobin Constant Spring and alpha-thalassemia Saudi are the only nondeletion types of alpha-thalassemia that will be detected by this assay. This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing.

Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

This assay cannot be performed on chorionic villus specimens.

Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Batched 2 times per week ​8 to 12 days Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)/Luminex Technology
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reference Lab
Reference Range Information
An interpretive report will be provided. 
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81269 ​1 ​Alpha-Globin Gene Analysis
​88235 ​1 ​Amniotic Fluid Culture ​Additional CPTs if Amniotic fluid is submitted
​88240 ​1 ​Cryopreservation ​Additional CPTs if Amniotic fluid is submitted
​81265 ​1 ​Maternal Cell Contamination ​Additional CPTs if Amniotic fluid is submitted
Synonyms/Keywords
​Alpha Globin
Alpha Thalassemia
Constant Spring
HBA1
Hemoglobin Bart
Hemoglobin-H Disease
Hydrops Fetalis
Saudi
Thalassemia, Alpha
Alpha-Thalassemia
HBA2
AGPB
Test Components
Alpha-Globin Gene Analysis (ATHL)

Reflex Tests 

Test ID
Reporting Name
Available Separately
Always Performed
CULAF
Amniotic Fluid Culture/Genetic Test
Yes
No
MATCC
Maternal Cell Contamination, B
Yes
No
Ordering Applications
Ordering Application Description
​Cerner ​Alpha-Globin Gene Analyisis (ATHAL)
​Centricity ​Alpha-Globin Gene Analyisis (ATHAL)
​COM ​Alpha-Globin Gene Analyisis (ATHAL)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​No ​Whole Blood EDTA ​Lavendar Top Tube (LTT) ​Yellow Top Tube (ACD) ​3.0 mL ​1.0 mL
No ​Amniotic Fluid ​Sterile Container/Syringe ​20.0 mL ​10.0 mL
Collection Processing

Specimen preferred to arrive within 96 hours of draw. ​

Invert several times to mix blood.  Send specimen in original tube.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
 
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
 
Due to the complexity of prenatal testing, consultation with Mayo Clinic Laboratories is required for all prenatal testing. Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. CST on Friday at Mayo Labs in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen. Order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.
 
Specimen Stability Information
Specimen Type Temperature Time
​Whole Blood ​ ​Ambient (preferred) ​96 hours
​Refrigerate ​96 hours
​Amniotic Fluid ​ ​Refrigerate (preferred) ​96 hours
​Ambient ​96 hours
Rejection Criteria
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Interference

Hemoglobin electrophoresis should usually be done prior to this test to exclude other diagnoses or to identify nondeletion types of alpha-thalassemia.

Hemoglobin Constant Spring and alpha-thalassemia Saudi are the only nondeletion types of alpha-thalassemia that will be detected by this assay. This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing.

Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

This assay cannot be performed on chorionic villus specimens.

Useful For
Diagnosis of alpha-thalassemia
Prenatal diagnosis of deletional alpha-thalassemia
Carrier screening for individuals from high-risk populations for alpha-thalassemia
Test Components
Alpha-Globin Gene Analysis (ATHL)

Reflex Tests 

Test ID
Reporting Name
Available Separately
Always Performed
CULAF
Amniotic Fluid Culture/Genetic Test
Yes
No
MATCC
Maternal Cell Contamination, B
Yes
No
Reference Range Information
An interpretive report will be provided. 
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Batched 2 times per week ​8 to 12 days Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)/Luminex Technology
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81269 ​1 ​Alpha-Globin Gene Analysis
​88235 ​1 ​Amniotic Fluid Culture ​Additional CPTs if Amniotic fluid is submitted
​88240 ​1 ​Cryopreservation ​Additional CPTs if Amniotic fluid is submitted
​81265 ​1 ​Maternal Cell Contamination ​Additional CPTs if Amniotic fluid is submitted
For most current information refer to the Marshfield Laboratory online reference manual.