Test Catalog

Test ID: WBSEQ    
Beta Globin Gene Sequencing, Blood

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This is a second-tier evaluation of beta thalassemia minor, intermedia, and major, as well as beta globin variant identification.


First-tier testing for beta thalassemia or beta globin variant detection is THEVP / Thalassemia and Hemoglobinopathy Evaluation or HBELC / Hemoglobin Electrophoresis Cascade, Blood.

Specimen Type Describes the specimen type validated for testing

Whole Blood EDTA

Advisory Information

For information on thalassemias and appropriate test ordering, see Thalassemia Tests in Special Instructions.

Necessary Information

1. Patient's age is required.

2. Include recent transfusion information.

Specimen Required Defines the optimal specimen required to perform the test and the preferred volume to complete testing


Preferred: Lavender top (EDTA)

Acceptable: ACD, sodium heparin

Specimen Volume: 3 mL

Collection Instructions: Do not transfer blood to other containers

Special Instructions Library of PDFs including pertinent information and forms related to the test


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. Thalassemia/Hemoglobinopathy Patient Information (T358) in Special Instructions.

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Other Moderately to severely clotted

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTimeSpecial Container
Whole Blood EDTARefrigerated14 days