Hemoglobinopathy Fractionation Cascade With Reflex to α-Thalassemia

CPT: 82728; 83020; 85027
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Test Includes

Complete blood count (CBC) without differential; ferritin; hemoglobinopathy fractionation cascade profile; reflex to α-thalassemia when appropriate. (See Special Instructions.)


Special Instructions

This test is intended for adults age 20 and older. If MCV is <80 and ferritin is normal or high, testing will reflex to α-thalassemia DNA. If reflex test is performed, additional charges/CPT code(s) may apply.

This test may exhibit interference when sample is collected from a person who is consuming a supplement with a high dose of biotin (also termed as vitamin B7 or B8, vitamin H, or coenzyme R). It is recommended to ask all patients who may be indicated for this test about biotin supplementation. Patients should be cautioned to stop biotin consumption at least 72 hours prior to the collection of a sample.


Expected Turnaround Time

4 - 8 days


Related Documents


Specimen Requirements


Specimen

Whole blood and serum


Volume

Three lavender-top (EDTA whole blood) tubes filled to capacity and 0.8 mL serum


Minimum Volume

Two lavender-top (EDTA whole blood) tubes filled to capacity and 0.3 mL serum. (Note: This volume does not allow for repeat testing.)


Container

Lavender-top (EDTA) tubes and red-top tube or gel-barrier tube


Collection

Lavender-top (EDTA) tubes should be filled to capacity and inverted 8 to 10 times immediately after tube is filled, at the time of collection. If a red-top tube is used for serum, transfer separated serum to a plastic transport tube.


Storage Instructions

Serum: Room temperature

Whole blood: Refrigerate.


Stability Requirements

Temperature

Period

Room temperature

1 day

Refrigerated

3 days

Frozen

Unstable


Causes for Rejection

Hemolysis; quantity not sufficient for analysis; tube not filled with minimum fill volume; specimen drawn in anticoagulant other than EDTA; specimen diluted or contaminated with IV fluid; clotted specimen; improper labeling; transfer tubes with whole blood; lavender-top (EDTA) tubes received with plasma removed; frozen specimens; refrigerated specimens >48 hours old


Test Details


Use

Diagnose thalassemias and hemoglobin variants, with ferritin to evaluate total body storage iron, and complete blood count without differential to detect and/or identify a wide range of hematologic disorders. When appropriate, additional reflex testing will be performed for α-thalassemia. DNA analysis of the α-globulin gene locus (HBA1/HBA2 OMIM 141800 and 141850,16pter-16p13.3) can detect copy-number changes by targeting 24 different sequences in the α-globulin region, and will, in principle, detect all genomic deletions and duplications involving this locus, in addition to the Constant Spring point mutation. The mutations analyzed include Southeast Asian(--SEA), Thai(--Thai), Filipino(--FIL), Mediterranean(--MED), a3.7, and a4.2.


Limitations

Limitations for Ferritin: As with all tests containing monoclonal mouse antibodies, erroneous findings may be obtained from samples taken from patients who have been treated with monoclonal mouse antibodies or have received them for diagnostic purposes.1 In rare cases, interference due to extremely high titers of antibodies to streptavidin and ruthenium can occur.1 The ferritin test contains additives that minimizes these effects.


Methodology

CBC: Automated cell counter; ferritin: electrochemiluminescence immunoassay (ECLIA); hemoglobin fractionation cascade: capillary electrophoresis (CE), high-pressure liquid chromatography (HPLC); hemoglobin solubility: sodium hydrosulfite reduction; if reflexed to α-thalassemia: polymerase chain reaction (PCR) and gel electrophoresis.


Additional Information

Refer to individual assays for additional information.


Footnotes

1. Ferritin. V7 Elecsys and Cobas Analyzers [package insert]. Indianapolis, IN: Roche; 2007-08.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
121363 Hemoglobpathy+Fer w/A Thal Rfx 121692 Hgb F % 32682-7
121363 Hemoglobpathy+Fer w/A Thal Rfx 121693 Hgb A % 20572-4
121363 Hemoglobpathy+Fer w/A Thal Rfx 121694 Hgb A2 % 4552-6
121363 Hemoglobpathy+Fer w/A Thal Rfx 121695 Hgb S % 32683-5
121363 Hemoglobpathy+Fer w/A Thal Rfx 121696 Interpretation: 12710-0
121363 Hemoglobpathy+Fer w/A Thal Rfx 004598 Ferritin ng/mL 2276-4
121363 Hemoglobpathy+Fer w/A Thal Rfx 005025 WBC x10E3/uL 6690-2
121363 Hemoglobpathy+Fer w/A Thal Rfx 005033 RBC x10E6/uL 789-8
121363 Hemoglobpathy+Fer w/A Thal Rfx 005041 Hemoglobin g/dL 718-7
121363 Hemoglobpathy+Fer w/A Thal Rfx 005058 Hematocrit % 4544-3
121363 Hemoglobpathy+Fer w/A Thal Rfx 015065 MCV fL 787-2
121363 Hemoglobpathy+Fer w/A Thal Rfx 015073 MCH pg 785-6
121363 Hemoglobpathy+Fer w/A Thal Rfx 015081 MCHC g/dL 786-4
121363 Hemoglobpathy+Fer w/A Thal Rfx 105007 RDW % 788-0
121363 Hemoglobpathy+Fer w/A Thal Rfx 015172 Platelets x10E3/uL 777-3
121363 Hemoglobpathy+Fer w/A Thal Rfx 015945 NRBC % 58413-6
121363 Hemoglobpathy+Fer w/A Thal Rfx 451854 Alpha Thal Reflex N/A
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121697 Hgb Solubility 121698 Hgb Solubility 6864-3
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121697 Hgb Solubility 121719 Final Interpretation: 12710-0
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121710 Hgb Fractionation by HPLC 121712 Hgb F % 42246-9
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121710 Hgb Fractionation by HPLC 121713 Hgb A % 42244-4
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121710 Hgb Fractionation by HPLC 121714 Hgb A2 % 42245-1
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121710 Hgb Fractionation by HPLC 121715 Hgb S % 44923-1
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121710 Hgb Fractionation by HPLC 121716 Hgb C % 44920-7
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121710 Hgb Fractionation by HPLC 121717 Hgb E % 44922-3
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121710 Hgb Fractionation by HPLC 121718 Hgb Variant % 42248-5
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121710 Hgb Fractionation by HPLC 121719 Final Interpretation: 12710-0
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121720 Hgb Frac by HPLC+Solubility 121698 Hgb Solubility 6864-3
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121720 Hgb Frac by HPLC+Solubility 121712 Hgb F % 42246-9
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121720 Hgb Frac by HPLC+Solubility 121713 Hgb A % 42244-4
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121720 Hgb Frac by HPLC+Solubility 121714 Hgb A2 % 42245-1
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121720 Hgb Frac by HPLC+Solubility 121715 Hgb S % 44923-1
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121720 Hgb Frac by HPLC+Solubility 121716 Hgb C % 44920-7
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121720 Hgb Frac by HPLC+Solubility 121717 Hgb E % 44922-3
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121720 Hgb Frac by HPLC+Solubility 121718 Hgb Variant % 42248-5
Reflex Table for Interpretation:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 121720 Hgb Frac by HPLC+Solubility 121719 Final Interpretation: 12710-0
Reflex Table for Alpha Thal Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511229 Alpha-Thalassemia 511232 Alpha-Thalassemia 21688-7
Reflex Table for Alpha Thal Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511229 Alpha-Thalassemia 511939 PDF 80563-0

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