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Test Code WAGDR Alpha Globin Cluster Locus Deletion/Duplication, Blood


Ordering Guidance


Sequence variants, other than the alpha T-Saudi and hemoglobin Constant Spring 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.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogeneic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.


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)

Useful For

Diagnosis of 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.

Method Name

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

Reporting Name

Alpha Globin Clustr Locus Del/Dup,B

Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

Blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Refrigerated

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday, Wednesday

Report Available

9 to 13 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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.

CPT Code Information

81269

LOINC Code Information

Test ID Test Order Name Order LOINC Value
WAGDR Alpha Globin Clustr Locus Del/Dup,B 90040-7

 

Result ID Test Result Name Result LOINC Value
621362 Result Summary 50397-9
621363 Result 82939-0
621364 Interpretation 69047-9
621365 Additional Information 48767-8
621366 Specimen 31208-2
621367 Source 31208-2
621368 Method 85069-3
621804 Disclaimer 62364-5
621369 Released By 18771-6