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Test Code HBEL1 Hemoglobin Electrophoresis Evaluation, Blood


Ordering Guidance


Multiple hematology evaluations are available. For information on testing that is performed with each evaluation, see Benign Hematology Evaluation Comparison.



Necessary Information


At minimum, include recent transfusion information and most recent complete blood cell count results.

 

Metabolic Hematology Patient Information (T810) is strongly recommended. Testing may proceed without this information, however if the information requested is received, any pertinent reported clinical features and data will drive the focus of the evaluation and be considered in the interpretation.

 

The laboratory has extensive experience in hemoglobin variant identification and many cases can be confidently classified without molecular testing. However, molecular confirmation is always available, subject to sufficient sample quantity (eg, multiplex ligation-dependent probe amplification testing requires at least 2 mL of sample in addition to protein testing requirements). If no molecular testing or specific molecular tests are desired, utilize the appropriate check boxes on the form. If the form or other communication is not received, the reviewing hematopathologist will select appropriate tests to sufficiently explain the protein findings, which may or may not include molecular testing.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

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

Specimen Volume: 10 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Metabolic Hematology Patient Information (T810)

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen

Useful For

Diagnosis and classification of hemoglobin disorders, including thalassemias and hemoglobin variants

Profile Information

Test ID Reporting Name Available Separately Always Performed
HBELI Hb Electrophoresis Interpretation No Yes
HGBCE Hb Variant, A2 and F Quantitation,B Yes Yes
HPLC HPLC Hb Variant, B No Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
HPFH Hb F Distribution, B No No
MASS Hb Variant by Mass Spec, B No No
SDEX Sickle Solubility, B Yes No
IEF Isoelectric Focusing, B No No
UNHB Hb Stability, B No No
ATHAL Alpha-Globin Gene Analysis Yes No
WASQR Alpha Globin Gene Sequencing, B Yes, (Order WASEQ) No
WBSQR Beta Globin Gene Sequencing, B Yes, (Order WBSEQ) No
WBDDR Beta Globin Cluster Locus Del/Dup,B Yes, (Order WBDD) No
WGSQR Gamma Globin Full Gene Sequencing Yes, (Order WGSEQ) No
HBEL0 Hb Electrophoresis Summary Interp No No

Testing Algorithm

This evaluation will always include hemoglobin (Hb) A2 and HbF and hemoglobin electrophoresis utilizing capillary electrophoresis and cation exchange high-performance liquid chromatography methods.

 

Reflex testing, performed at additional charge, may include any or all of the following to identify rare hemoglobin variants present: sickle solubility (hemoglobin S screen); hemoglobin heat and isopropanol stability studies (unstable hemoglobin); isoelectric focusing, intact globin chain mass spectrometry (hemoglobin variant by mass spectrometry); HbF distribution by flow cytometry; DNA Sanger sequencing assays for: 1) beta-chain variants and the most common beta thalassemias (beta-globin gene sequencing), 2) alpha-chain variants and less common nondeletional alpha thalassemias (alpha-globin gene sequencing), or 3) gamma-chain variants and nondeletional hereditary persistence of fetal hemoglobin (HPFH) (gamma-globin full gene sequencing); multiplex ligation-dependent probe amplification assays for: 1) large deletional alpha thalassemias and alpha-gene duplications (alpha-globin gene analysis), or 2) beta-globin gene cluster locus large deletions and duplications, including large deletional HPFH, delta-beta thalassemia, gamma-delta-beta thalassemia, epsilon-gamma-delta-beta thalassemia and large deletional beta or delta thalassemia (beta-globin cluster locus deletion/duplication).

 

If test results in the profile are abnormal, results may be reviewed by a hematopathology consultant, and a summary interpretation provided.

 

One or more of the following molecular tests may be reflexed:

-ATHAL / Alpha-Globin Gene Analysis, Varies

-WASQR / Alpha-Globin Gene Sequencing, Blood

-WBSQR / Beta-Globin Gene Sequencing, Blood

-WBDDR / Beta-Globin Cluster Locus Deletion/Duplication, Blood

-WGSQR / Gamma-Globin Full Gene Sequencing, Varies

 

For cases with molecular testing added, a preliminary interpretation will be reported that discusses the protein test results. After all test results are finalized, an additional consultative interpretation that summarizes all testing and incorporates subsequent genetic results will be provided.

Method Name

HBELI, HBEL0: Medical Interpretation

HGBCE: Capillary Electrophoresis

HPLC: Cation Exchange/High-Performance Liquid Chromatography (HPLC)

IEF: Isoelectric Focusing

MASS: Mass Spectrometry (MS)

HPFH: Flow Cytometry

UNHB: Isopropanol and Heat Stability

Reporting Name

Hb Electrophoresis Evaluation

Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

1 mL (this volume will limit reflex testing possibilities)
3 mL if multiplex ligation-dependent probe amplification is needed

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Refrigerated 7 days

Reject Due To

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

Reference Values

Hemoglobin Electrophoresis Interpretation

Definitive results and an interpretative report will be provided.

 

Hemoglobin Variant, A2 and F Quantitation

HEMOGLOBIN A

0-30 days: 5.9-77.2%

1-2 months: 7.9-92.4%

3-5 months: 54.7-97.1%

6-8 months: 80.0-98.0%

9-12 months: 86.2-98.0%

13-17 months: 88.8-98.0%

18-23 months: 90.4-98.0%

≥24 months: 95.8-98.0%

 

HEMOGLOBIN A2

0-30 days: 0.0-2.1%

1-2 months: 0.0-2.6%

3-5 months: 1.3-3.1%

≥6 months: 2.0-3.3%

 

HEMOGLOBIN F

0-30 days: 22.8-92.0%

1-2 months: 7.6-89.8%

3-5 months: 1.6-42.2%

6-8 months: 0.0-16.7%

9-12 months: 0.0-10.5%

13-17 months: 0.0-7.9%

18-23 months: 0.0-6.3%

≥24 months: 0.0-0.9%

 

VARIANT 1

0.0

 

VARIANT 2

0.0

 

VARIANT 3

0.0

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test has been modified from the manufacturer's instructions. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

83020

83021

82664 (if appropriate)

83068 (if appropriate)

83789 (if appropriate)

88184 (if appropriate)

83020-26 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HBEL1 Hb Electrophoresis Evaluation 94538-6

 

Result ID Test Result Name Result LOINC Value
41927 Hb A 20572-4
65615 HPLC Hb Variant, B No LOINC Needed
608088 Hb Electrophoresis Interpretation 49316-3
609421 Hb Electrophoresis Interp Cancel No LOINC Needed
41928 Hb F 32682-7
41929 Hb A2 4552-6
41930 Variant 1 24469-9
41931 Variant 2 24469-9
41932 Variant 3 24469-9
41933 HGBCE Interpretation 78748-1

NY State Approved

Yes

Day(s) Performed

Monday through Thursday

Report Available

2 to 25 days