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

Method Name

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


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.



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.


Reporting Name

Alpha Globin Clustr Locus Del/Dup,B

Specimen Type

Varies

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Report Available

9 to 13 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

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.

Day(s) Performed

Varies

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

Specimen Minimum Volume

Blood: 1 mL

Reference Values

An interpretive report will be provided.