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17365: Thalessemia And Hemoglobinopathy Comprehensive Evaluation Print View
Reviewed by:      
Hemoglobin A     % 
Hemoglobin F     % 
Hemoglobin A2 (Quant)     % 
Hemoglobin A2 Prime     % 
Hemoglobin S     % 
Hemoglobin C     % 
Hemoglobin D     % 
Hemoglobin G     % 
Hemoglobin Lepore     % 
Hemoglobin E     % 
Hemoglobin Barts     % 
Variant Hemoglobin     % 
C-Z Electrophoresis      
Red Blood Cell Count     Million/uL 
Hemoglobin     g/dL 
Hematocrit     % 
MCV     FL 
MCH     pg 
MCHC     g/dL 
RDW     % 
Ferritin     ng/mL 

1 Whole Blood EDTA 5 (5) mL   Room Temperature - 72 Hour(s)/Refrigerated - 72 Hour(s)  
2 Serum 1 (0.5) mL   Room Temperature - 72 Hour(s)/Frozen - 30 Day(s)/Refrigerated - 72 Hour(s)  
  Whole Blood Heparin 5 (5) mL   Refrigerated - 72 Hour(s)/Room Temperature - 72 Hour(s)  
  Plasma EDTA 1 (0.5) mL   Room Temperature - 72 Hour(s)/Refrigerated - 72 Hour(s)/Frozen - 30 Day(s)  

Thalassemia and hemoglobinopathies are disorders related to hemoglobin pathophysiology Although hemoglobinopathies and thalassemias are two genetically distinct disease groups, the clinical manifestations of both include anemia of variable severity and variable pathophysiology. Thalassemias are group of autosomal recessive disorder of hemoglobin synthesis characterized by the reduction in the rate of synthesis of globin chain of one or more globin chain. The decreased synthesis of globin chain may result from gene deletion, non-sense mutation or mutation that affects the transcription or stability of mRNA products. Thalassemias are classified by the type and magnitude of decreased synthesis of the globin chain and severity of the clinical symptoms. The clinical manifestation ranges from mild anemia with microcytosis to fatal severe anemia. In the alpha-thalassemias, there is absence or decreased production of a-globin subunits, whereas in the beta-thalassemias, there is absent or reduced production of beta globin subunits. Rare thalassemias affecting the production of delta or gamma globin subunits have also been described but are not clinically significant disorders. The beta-thalassemias can be sub-classified into those in which there is total absence of normal beta globin subunit synthesis or accumulation, the beta-zero thalassemias, and those in which some structurally normal beta globin subunits are synthesized, but in markedly decreased amounts, the beta-plus thalassemias. The alpha- thalassemia syndromes however, are usually caused by the deletion of one or more alpha globin genes and are sub-classified according to the number of alpha globin genes that are deleted (or mutated): one gene deleted (alpha-plus thalassemia); two genes deleted on the same chromosome or in cis (alpha-zero thalassemia); three genes deleted (HbH disease); or four genes deleted (hydrops fetalis with Hb Bart's).

Specimen must arrive within 72 hours of draw. Both whole blood AND
serum (preferred) OR whole blood AND plasma (acceptable) are required
for this test.

Whole Blood: Draw blood in an EDTA (lavender-top) tube(s) and send
15 mL (pediatric: 5 mL) of fresh EDTA whole blood refrigerated.
Specimen cannot be frozen.

Serum: Draw blood in a red-top tube (no gel) or a serum gel tube. Spin
down and send 1 mL (0.5 mL minimum) of serum refrigerated (preferred)
or room temperature (acceptable).

Plasma: Draw blood in heparinized (green-top) or EDTA (lavender-top)
tube. Mix by gentle inversion. Then, spin down and send 1 mL plasma
(Minimum: 0.5mL) refrigerated (preferred) or room temperature

Please note:
1. Patient's age and sex are required on request form.
2. Include recent transfusion information.
3. Label specimen appropriately (blood, serum).
Setup Schedule

Reported (Analytical Time)
22-29 days

CPT Codes

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Specimen Requirements:
Adult: 5 mL (5 mL minimum collected in each of two separate tubes) whole blood collected in each of three separate EDTA (lavender-top) tubes AND 1 mL (0.5 mL minimum) serum
Pediatric: 1 mL (1 mL minimum collected in each of two separate tubes) whole blood collected in each of three separate EDTA (lavender-top) tubes AND 1 mL (0.5 mL minimum) serum
Adult: Whole blood AND 1 mL (0.5 mL minimum) plasma in EDTA (lavender- top) or sodium heparin (green-top) tube
Pediatric: Whole blood AND 1 mL (0.5 mL minimum) plasma in EDTA (lavender-top) or sodium heparin (green-top) tube
Transport Temperature: Refrigerated
Methodology: Capillary Zone Electrophoresis * High Performance Liquid Chromatography * Immunochemiluminometric Assay
Reject Criteria: Hemolysis
Additional Information: This is a reflexive profile. Additional testing, such as molecular tests, will be added at an additional charge, if indicated. If results suggest sickling hemoglobin, Sickle Cell Screen will be performed at an additional charge (CPT code(s): 85660). If results suggest an unstable hemoglobin based on % of the variant and pattern seen on HPLC and Electrophoresis , Unstable Hemoglobin (Isopropanol) will be performed at an additional charge (CPT code(s):
83068). If the hemogram shows microcytosis or decreased MCH or both and, there is no evidence of beta thalassemia (i.e., normal A2 and HbF), Alpha Globin common mutation analysis 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, point to an unidentified alpha globin variant, the sample will be sent for DNA sequencing and Al

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