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Test Code WBGDD Beta-Globin Gene Cluster, Deletion/Duplication, Varies


Additional Testing Requirements


Hemoglobin electrophoresis studies performed at Mayo Clinic Laboratories are highly recommended prior to this test to allow for more complete interpretation of results. See HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood or THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum.



Shipping Instructions


Specimens must arrive within 4 days (96 hours) of collection.



Necessary Information


Metabolic Hematology Patient Information (T810) is required. Send a completed form with the specimen. Document the reason for suspecting a large beta cluster locus deletion along with the hemoglobin F percentage and red blood cell indices for the patient.



Specimen Required


Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in the original tube. Do not aliquot.

Specimen Stability Information: Refrigerated (preferred)/Ambient


Genetics Test Information

This test can be used to identify a variety of conditions (see Highlights) that involve large deletions of the beta-globin gene cluster. These alterations will not be detected by DNA sequencing of the beta-globin gene.

Specimen Type

Varies

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Day(s) Performed

Wednesday, Friday

Report Available

25 to 30 days

Specimen Retention Time

Whole blood: 2 weeks; DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81363-HBB (hemoglobin, beta, beta-globin) (e.g. beta thalassemia), duplication/deletion analysis

Reference Values

An interpretive report will be provided