Sign in →

Test Code THHEM Thalassemia and Hemoglobinopathy Comprehensive

Specimen Required

1 mL serum AND 15 mL (or 5 mL pediatric) whole blood

Specimen Minimum Volume

0.5 mL serum AND 5 mL whole blood

Specimen Stability

Serum or plasma Room temperature: 72 hours Refrigerated: 72 hours Frozen: 30 days

Rejection Due To

Hemolysis

Day(s) and Time(s) Performed

 Mon-Sat a.m.

Method Name

Capillary Zone Electrophoresis (CZE) • High Performance Liquid Chromatography (HPLC) • Immunochemiluminometric Assay (ICMA)

Collection Container / Tube

Preferred: Red Top & EDTA (Lavendar – top)
Other Acceptable Container: plasma collected in an EDTA (lavender-top) or sodium heparin (green-top)

Transport / Storage Conditions

Refrigerated 
Note: Tubes must be insulated from cold packs to prevent hemolysis

Reference Values

See Laboratory Report

Analytic Time

21 days

Alias/See Also

LAB11800

Message

Includes
Hemoglobin A2, Hemoglobin F, Ferritin, Hemogram (WBC, RBC, Hemoglobin, Hematocrit, MCV, MCH, MCHC, RDW

If results suggest a sickling hemoglobin, Sickle Cell Screen will be performed at an additional charge (CPT code(s): 85660). 

If results indicate uncommon hemoglobin(s) (other than commonly encountered Hemoglobins such as S, C, E, Lepore, D-Punjab, G-Philadelphia, etc.), Hemoglobin Alkaline Electrophoresis will be performed at an additional charge (CPT code(s): 83020). 

If results indicate unusual hemoglobin(s) (other than commonly encountered Hemoglobins such as S, C, E, Lepore, D-Punjab, G-Philadelphia, etc.), Hemoglobin Acid Electrophoresis will be performed at an additional charge (CPT code(s): 83020). 

If results indicate very unusual hemoglobin(s), unclear from results of HPLC, Capillary Zone Electrophoresis (CZE) and Alkaline and Acid Electrophoresis, and to identify/confirm delta variants,  Hemoglobin Isoelectric Focusing (IEF) will be performed at an additional charge (CPT code(s): 83021). 

If results suggest an unstable hemoglobin based on % of the variant and pattern seen on HPLC, Electrophoresis and IEF, Unstable Hemoglobin (Isopropanol) will be performed at an additional charge (CPT code(s): 83068). 

If an individual has no evidence of microcytosis or A2 elevation and has an elevated F of approximately 25%, Hemoglobin F by Flow Cytometry, will be done to determine if the HbF pattern is homocellular and therefore, likely due to deletion, at an additional charge (CPT code(s): 83030). 

If the hemogram shows microcytosis or decreased MCH or both and, there is no evidence of iron deficiency (i.e., normal Ferritin) or beta thalassemia (i.e., normal A2 and HbF), Alpha-Thalassemia DNA Common Deletions will be performed at an additional charge (CPT code(s): 81257). In consultation with the client, this test may also be performed (at an additional charge) in an individual with a normal hemogram for genetic counseling purposes as individuals with mild alpha thalassemia commonly have a normal hemogram and normal fractions. 

If HPLC or CZE, Alkaline and Acid Electrophoresis and IEF point to an unidentified alpha globin variant, the sample will be sent for DNA sequencing and Alpha Globin Complete will be performed at an additional charge (CPT code(s): 81479). 

If the genotyping results for the common deletions do not match the phenotype, Alpha Globin Gene Deletion or Duplication will be performed at an additional charge (CPT code(s): 81404) and Alpha Globin Complete will be performed at an additional charge (CPT code(s): 81479). 

If a rare beta globin variant cannot be definitively identified by HPLC, CZE, Alkaline and Acid Electrophoresis and IEF, Sequencing, and Beta Globin Complete will be performed at an additional charge (CPT code(s): 81404). 

In consultation with the client, Beta Globin Complete may also be done in an individual with beta thalassemia trait/intermedia/major identified by HPLC to determine the severity of the allele(s) for genetic counseling purposes or disease risk assessment. If any of the following tests are performed: Alpha-Thalassemia DNA Common Deletions, Alpha Globin Gene Deletion or Duplication, Alpha Globin Complete, Beta Globin Complete then, Genotype and Phenotype Review will be added at an additional charge (CPT code(s): 80500).