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HelpTest Code ATHAL Alpha-Globin Gene Analysis, Varies
Useful For
Diagnosis of alpha-thalassemia
Prenatal diagnosis of deletional alpha-thalassemia
Carrier screening for individuals from high-risk populations for alpha-thalassemia
This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.
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 |
Testing Algorithm
For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added at an additional charge.
For any prenatal specimen that is received, maternal cell contamination studies will be added.
Special Instructions
Method Name
Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)/Luminex Technology
Reporting Name
Alpha-Globin Gene AnalysisSpecimen Type
VariesOrdering Guidance
This assay cannot be performed on chorionic villus specimens.
Point alterations are not detected by this assay. For detection of single point and other nondeletion variants, order WASEQ / Alpha Globin Gene Sequencing, Varies if clinically indicated.
Additional Testing Requirements
All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Prenatal Specimens
Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor.
Specimen Type: Amniotic fluid
Container/Tube: Amniotic fluid container
Specimen Volume: 20 mL
Specimen Stability Information: Refrigerated (preferred)/Ambient
Acceptable:
Specimen Type: Confluent cultured cells
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured cells from another laboratory.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Minimum Volume
Blood: 1 mL; Amniotic Fluid: 10 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Interpretation
An interpretive report will be provided.
Clinical Reference
1. Harteveld CL, Voskamp A, Phylipsen M, et al: Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterized by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005 Dec;42(12):922-931. doi: 10.1136/jmg.2005.033597
2. Harteveld CL, Higgs DR: Alpha-thalassemia. Orphanet J Rare Dis. 2010 May;5:13. doi: 10.1186/1750-1172-5-13
3. Bunn HF, Forget BG: Hemoglobin: Molecular, Genetic and Clinical Aspects. 2nd ed. WB Saunders Company; 1986
4. Weatherall DJ, Higgs DR, Clegg JB, Hill AS, Nicholls R: Heterogeneity and origins of the alpha-thalassemias. Birth Defects Origi Artic Ser. 1987;23(5A):3-14
Day(s) Performed
Monday, Wednesday
Report Available
9 to 13 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81269
88235-Tissue culture for amniotic fluid (if appropriate)
88240-Cryopreservation (if appropriate)
81265-Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing or maternal cell contamination of fetal cells (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| ATHAL | Alpha-Globin Gene Analysis | 90040-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 52834 | Result Summary | 50397-9 |
| 52835 | Result | 82939-0 |
| 52836 | Interpretation | 69047-9 |
| 54871 | Additional Information | 48767-8 |
| 52837 | Specimen | 31208-2 |
| 52838 | Source | 31208-2 |
| 52839 | Method | 85069-3 |
| 52840 | Released By | 18771-6 |
Profile Information
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| ATHL | Alpha-Globin Gene Analysis (ATHL) | No | Yes |
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.