Test Catalog

Test ID: THEVP    
Thalassemia and Hemoglobinopathy Evaluation

Useful For Suggests clinical disorders or settings where the test may be helpful

Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia including complex disorders

 

Evaluation of microcytosis

 

Diagnosis of hereditary persistence of hemoglobin (HPFH)

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
THEVHemoglobinopathy InterpretationNoYes
A2FHemoglobin A2 and FNoYes
HBELHemoglobin Electrophoresis, BNoYes
FERRFerritin, SYesYes

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
SDEXHemoglobin S, Scrn, BYesNo
IEFIEF ConfirmsNoNo
MASSHb Variant by Mass Spec, BNoNo
UNHBUnstable Hemoglobin, BNoNo
HPFHHemoglobin F, Red Cell Distrib, BNoNo
ATHALAlpha-Globin Gene AnalysisYesNo
WASQRAlpha Globin Gene Sequencing, BYes, (WASEQ)No
WBSQRBeta Globin Gene Sequencing, BYes, (WBSEQ)No
WBDDRBeta Globin Cluster Locus Del/Dup,BYes, (WBDD)No
WGSQRGamma Globin Full Gene SequencingYes, (WGSEQ)No
THEVAThalassemia Summary InterpretationNoNo

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

This is a consultative evaluation in which the case will be evaluated at Mayo Clinic Laboratories, the appropriate tests performed at an additional charge, and the results interpreted.

 

This evaluation will always include hemoglobin A(2) and F and hemoglobin electrophoresis utilizing cation exchange HPLC and capillary electrophoresis methods.

 

If a serum sample is received, a serum ferritin will always be performed to allow incorporation of possible iron deficiency into profile interpretation and economical test utilization. If the ferritin component is not desired, do not send a serum sample and none will be performed or charged. Fill out the Thalassemia/Hemoglobinopathy Patient Information sheet (T358) and indicate the CBC values and ferritin levels for a more complete evaluation.

Note: If a ferritin is not done or provided, and if microcytosis is present and no other abnormalities are found, the case will be reflexed to alpha-globin gene analysis.

 

Hemoglobin electrophoresis reflex testing, performed at additional charge, may include any or all of the following as indicated 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), Hb F distribution by flow cytometry (hemoglobin F red cell distribution), DNA (Sanger) testing for beta chain variants and the most common beta thalassemias (beta-globin gene sequencing), multiplex ligation-dependent probe amplification (MLPA) testing for beta cluster locus large deletions and duplications, including large deletional hereditary persistence of fetal hemoglobin (HPFH), delta-beta (DBT), delta thalassemias, gamma-delta-beta (GDBT), and epsilon-gamma-delta-beta (EGDBT) thalassemias (beta globin cluster locus del/dup), large deletional alpha thalassemias and alpha gene duplications (alpha-globin gene analysis), alpha chain variants and non-deletional alpha thalassemias (alpha-globin gene sequencing), and gamma chain variants and non-deletional HPFH (gamma-globin full gene sequencing).

 

If a Thalassemia/Hemoglobinopathy Patient Information sheet (T358) is received with the sample, the reported clinical features or clinical impression will be considered in the interpretation and focus of the evaluation. Our laboratory has extensive experience in hemoglobin variant identification and many cases can be confidently classified without molecular testing. However, molecular confirmation is always available. If no molecular testing or, conversely, specific molecular tests are desired, please utilize the appropriate check boxes in the information sheet. If the information sheet or other communication is not received, the reviewing hematopathologist will select appropriate tests to sufficiently explain the clinical impression or reported CBC results, which may or may not include molecular testing.

 

Thalassemia Summary Interpretation, an additional consultative interpretation that summarizes all testing, will be provided after test completion to incorporate subsequent results into overall evaluation if any of the following molecular tests are reflexed on the Thalassemia and Hemoglobinopathy Evaluation:

-ATHAL / Alpha-Globin Gene Analysis

-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

 

See Benign Hematology Evaluation Comparison in Special Instructions.

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

Method Name A short description of the method used to perform the test

THEV: Consultative Interpretation

A2F: Cation Exchange/High-Performance Liquid Chromatography (HPLC)

HBEL: Capillary Electrophoresis

FERR: Immunoenzymatic Assay

IEF: Electrophoresis

MASS: Mass Spectrometry (MS)

HPFH: Flow Cytometry

UNHB: Isopropanol and Heat Stability

THEVA: Consultative Interpretation

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Thalassemia and Hemoglobinopathy Ev

Aliases Lists additional common names for a test, as an aid in searching

Alpha-Thalassemia Evaluation
Beta Thalassemia
Hemoglobin Electrophoresis
A2 Hemoglobin
Alpha Globin Variant
Barts Hemoglobin
Beta Globin Variant
Alpha Thalassemia
Hemoglobin A2
Hemoglobin Cascade
Hemoglobin Electrophoresis Cascade Level 1
Mass Spectrometry
Hemoglobin Molecular studies
Hemoglobin Variant
H Disease
HGB (Hemoglobin) Electrophoresis
Isoelectric Focusing
Sickling Test
Thalassemia
Microcytosis
Sickle cell
E beta thalassemia
S beta thalassemia
Hemoglobinopathy
Hb Barts
Hydrops fetalis
Barts hydrops fetalis
Hb H disease
Hemoglobin H disease
HBA1
HBA2
HBB
HBG1
HBG2
HPFH
MLPA