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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
​Invert several times to mix blood.  Send specimen in original tube.
 
All prenatal specimens must be accompanied by a maternal blood specimen. Order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.

This assay cannot be performed on chorionic villus specimens.
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
No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. If questions, contact laboratory.
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Medical Laboratories ​Batched 2 times per week ​10 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
Mayo Clinic Laboratories
Reference Range Information
Interpretive Report
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
​Invert several times to mix blood.  Send specimen in original tube.
 
All prenatal specimens must be accompanied by a maternal blood specimen. Order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.

This assay cannot be performed on chorionic villus specimens.
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
No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. If questions, contact laboratory.
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
Interpretive Report
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Medical Laboratories ​Batched 2 times per week ​10 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
Mayo Clinic Laboratories
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.