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Test Code WGSEQ Gamma Globin Full Gene Sequencing, Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Method Name

Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis

Reporting Name

Gamma Globin Full Gene Sequencing


Shipping Instructions


 



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

 

Specimen Type: Extracted DNA from whole blood

Container/Tube: 1.5-2 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


Specimen Type

Varies

Specimen Minimum Volume

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

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

Gross hemolysis OK
Bone marrow Paraffin-embedded tissue Frozen tissue Paraffin-embedded bone marrow aspirate clot Methanol-acetic acid (MAA)-fixed pellets Moderately to severely clotted Reject

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday; Varies

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

Useful For

An adjunct in the interpretation of hemoglobin electrophoresis results

 

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

 

Assessment of unstable gamma chain variants when other tests for causes of hemolysis are unrevealing)

Interpretation

An interpretive report will be provided and will include specimen information, assay information, and whether the specimen was positive for any variants in the gene. If positive, the alteration will be correlated with clinical significance, if known.

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