TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: WASEQ    
Alpha Globin Gene Sequencing, Varies

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

This test is a second-tier test in the evaluation of alpha thalassemia carrier determination, hemoglobin H disease confirmation, and alpha globin variant identification.

Specimen Type Describes the specimen type validated for testing

Varies

Advisory Information

For first-tier testing for alpha thalassemia detection, order THEVP / Thalassemia and Hemoglobinopathy Evaluation, Serum and Whole Blood.

 

For first-tier testing for an alpha globin variant, order HBELC / Hemoglobin Electrophoresis Cascade, Blood.

 

If genetic testing is desired, the first-tier genetic test assesses large deletional alpha thalassemia alterations. Order ATHAL / Alpha-Globin Gene Analysis, Varies.

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

Submit only 1 of the following specimens:

 

Specimen Type: Peripheral blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD), green top (sodium heparin)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in the original tube.

Specimen Stability Information: Refrigerate 30 days(preferred)/Ambient 14 days

 

Specimen Type: Extracted DNA from whole blood

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA from blood and provide indication of volume and concentration of the DNA

Specimen Stability Information: Frozen (preferred)/Refrigerate/Ambient

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

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. 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

Blood: 1 mL
Extracted DNA: 50 mcL at 50 ng/mcL concentration

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

Gross hemolysis OK
Moderately to severely clotted Reject

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
VariesVaries