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Test Catalog

Test ID: THEV1    
Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

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

Evaluation of microcytosis

 

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

 

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
THEVIHemoglobinopathy InterpretationNoYes
HGBCEHb Variant, A2 and F Quantitation,BYesYes
HPLCHPLC Hb Variant, 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
HPFHHb F Distribution, BNoNo
SDEXSickle Solubility, BYesNo
IEFIsoelectric Focusing, BNoNo
UNHBHb Stability, BNoNo
MASSHb Variant by Mass Spec, BNoNo
ATHALAlpha-Globin Gene AnalysisYesNo
WASQRAlpha Globin Gene Sequencing, BYes, (Order WASEQ)No
WBSQRBeta Globin Gene Sequencing, BYes, (Order WBSEQ)No
WBDDRBeta Globin Cluster Locus Del/Dup,BYes, (Order WBDD)No
WGSQRGamma Globin Full Gene SequencingNoNo
THEV0Thalassemia 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 hemoglobins A(2) and F and hemoglobin electrophoresis utilizing cation exchange high-performance liquid chromatography (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. Note: If a ferritin is not performed or provided, and if microcytosis is present and no other abnormalities are found (beta thalassemia, a hemoglobin variant that is associated with microcytosis), the case will be reflexed to alpha-globin gene analysis unless otherwise requested not to be performed.

 

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, Hb F distribution by flow cytometry (hemoglobin F red cell distribution), cation exchange HPLC, 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).

 

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, 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

The results of the individual protein and molecular tests will be released as they are completed; with a final summary interpretation report correlating all performed testing with any clinical information or complete blood cell count results received.

 

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

THEVI: Consultative Interpretation

HGBCE: Capillary Electrophoresis

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

FERR: Immunoenzymatic Assay

IEF: Electrophoresis

MASS: Mass Spectrometry (MS)

HPFH: Flow Cytometry

UNHB: Isopropanol and Heat Stability

THEV0: Medical 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

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