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Test Code WGSEQ Gamma Globin Full Gene Sequencing, Varies

Useful For

An adjunct in the interpretation of hemoglobin electrophoresis results

 

Evaluation for suspected gamma variants or nondeletional hereditary persistence of fetal hemoglobin (HPFH)

 

Assess for unstable gamma chain variants (there are occasionally newborns who are jaundiced at birth, often requiring phototherapy, in which all other tests for causes of hemolysis are unrevealing)

Method Name

Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis

Reporting Name

Gamma Globin Full Gene Sequencing

Specimen Type

Varies


Shipping Instructions


Specimens must arrive within 30 days (720 hours) of collection.



Necessary Information


A complete patient history is strongly encouraged.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Peripheral 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.

Specimen Stability: Refrigerate

 

Specimen Type: Extracted DNA from whole blood

Container/Tube: 1.5-2mL tube with indication of volume and concentration of DNA

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA from blood.

2. Write the DNA concentration on the specimen tube.

Specimen Stability: Frozen (preferred)/Refrigerate/Ambient


Specimen Minimum Volume

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

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies 30 days

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday

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. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479-Unlisted molecular

LOINC Code Information

Test ID Test Order Name Order LOINC Value
WGSEQ Gamma Globin Full Gene Sequencing In Process

 

Result ID Test Result Name Result LOINC Value
46952 Gamma Globin Gene Sequencing Result 50397-9
46953 Gamma Globin Interpretation 59466-3

Forms

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

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) in Special Instructions.