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Test ID: 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.

Method Name

Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)/Luminex Technology

Reporting Name

Alpha-Globin Gene Analysis

Specimen Type


Specimen Required

Ordering 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. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.


Submit only 1 of the following specimens:


Specimen Type: Whole blood


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 the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.


Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient



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

Clinical Information

The thalassemias are a group of inherited conditions characterized by decreased synthesis of one or more of the globin chains, resulting in an imbalance in the relative amounts of the alpha and beta chains. The excess normal chains precipitate in the cell, damaging the membrane and leading to premature red blood cell destruction. Additionally, the defect in hemoglobin synthesis produces a hypochromic, microcytic anemia. The frequency of thalassemia is due to the protective advantage against malaria that it gives carriers. Consequently, thalassemias are prevalent in populations from equatorial regions in the world where malaria is endemic.


Alpha-thalassemia is caused by decreased synthesis of alpha-globin chains. Four alpha-globin genes are normally present (2 on each chromosome 16). One, 2, 3, or 4 alpha-globin genes may be deleted or, less commonly, contain variants. Deletions account for approximately 90% of disease-causing alleles in alpha thalassemia. Phenotypically, these deletions result in 4 categories of disease expression:

-Deletion of 1 alpha-chain: Silent carrier state, with a normal phenotype

-Deletion of 2 alpha-chains: Alpha-thalassemia trait (alpha-1 thalassemia), with mild hematologic changes but no major clinical difficulties

-Deletion of 3 alpha-chains: Hemoglobin H disease, which is extremely variable but usually includes anemia due to hemolysis, jaundice, and hepatosplenomegaly

-Deletion of all 4 alpha-chains: Hemoglobin Bart, with hydrops fetalis and almost invariably in utero demise


Less frequently, alpha-thalassemia results from single point alterations, such as hemoglobin Constant Spring  (HBA2: c.427T >C). Note: these point alterations are not detected by this assay.


Alpha-thalassemia occurs in all ethnic groups but is especially common in individuals of Southeast Asian and African ancestry. It is also frequent in individuals of Mediterranean ancestry. The carrier frequency is estimated to be 1 in 20 for Southeast Asians, 1 in 30 for African Americans, and 1 in 30 to 1 in 50 for individuals of Mediterranean ancestry. Both deletional and nondeletional (caused by point alterations) forms of alpha-thalassemia are found in individuals with Mediterranean ancestry. Deletions in cis (deletions on the same chromosome) are rare in African or Mediterranean populations but are prevalent in Asian populations. Couples in which both partners carry deletions in cis are at risk of having a child with the fatal hemoglobin Bart hydrops fetalis syndrome.

Reference Values

An interpretive report will be provided.


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 days

CPT Code Information


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. This test has not been cleared or approved by the US Food and Drug Administration.


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.

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: