Hemoglobin DNA Test – Hb, S,C,E,D or O-Arab, Common Beta-Thalassemia Mutation, Beta-Globin Gene Sequencing


Hemoglobin DNA Test – Hb, S,C,E,D or O-Arab,

Common Beta-Thalassemia Mutation, Beta-Globin Gene Sequencing

Laboratory Fee Schedule

Procedure #:  BAN0114Z, BAM0108Z, BAH0080Z
CPT:  81401, 81404


Hemoglobin DNA Test – Hb, S,C,E,D or O-Arab, Common Beta-Thalassemia Mutation, Beta-Globin Gene Sequencing
Synonym(s): Hemoglobin DNA 
Requisition Form G-1B 
Test Description Hemoglobin S, C, D, E, and O-Arab, two β-thalassemia mutations (-29, A→G and –88, C→T), Beta-Globin Gene sequencing 
Pre-Approval Needed N/A 
Supplemental Information Required N/A 
Supplemental Form(s) N/A 
Performed on Specimens from (sources) Human 
Sample/Specimen Type for Testing 
  • Dried filter paper blood spots
  • EDTA anticoagulated (purple top tube) whole blood 
Minimum Volume/Size Required 
  • One ½ inch dried filter paper blood spot 
  • 1mL whole blood
Storage/Preservation Prior to Shipping 

Dried filter paper blood specimens

  • Allow card to dry thoroughly at room temperature in a horizontal position for at least 3 hours. Do NOT allow specimen to touch any surface.
  • Keep specimen away from heat and direct sunlight.
  • Cover dried specimen with attached flap.

Whole blood specimens 

  • Refrigerate whole blood samples until shipment. 
Transport Medium EDTA acceptable for whole blood 
Specimen Labeling Two patient-specific identifiers required (e.g., patient full name, date of birth, Medical record number) 
Shipping and Specimen Handling Requirements 

Ship all specimens according to Dangerous Good Regulations, IATA, and/or CFR 49.


Must include one completed G-1B form per specimen.  

DRIED FILTER PAPER BLOOD SPECIMENS

  • U.S. Postal regulations require Double containment of dried blood filter paper specimens. Ensure specimens are thoroughly dried prior to placing in envelope.
  • 1st containment: Use the attached wrap-around cover with printed universal biohazard symbol. Do not put biohazard labels on outside of envelope.
  • 2nd containment:  Place dried filter paper blood specimen in an envelope that is not hermetically sealed. Do not put specimens in plastic bags
  • Ship as soon as possible; within 24hrs of collection. 
  • Avoid temperatures greater than 100°F. 

WHOLE BLOOD SHIPPING REQUIREMENT 

  • Refrigerate sample until shipment.
  • Whole blood specimens must be shipped overnight at room temperature or refrigerated and received within 7 days of collection.
  • U.S. Postal regulations require Triple containment: See instructions on how to triple contain a specimen for shipping.
MethodAllelic Discrimination, Sanger Sequencing 
Turn-around Time Within 4 working days for Allelic Discrimination, within 9 working days for sequencing 
Interferences/Limitations 
  • Pathogenic intronic variants, large deletions/duplications, or whole gene deletions/duplications may not be identified by this methodology.  Test results should not be used as a diagnostic test but should be interpreted in the context of clinical findings, family history, and other laboratory data
  • Please refer to the disclaimer(s) on the individual laboratory report(s) and/or contact the laboratory for additional information.
Common Causes for Rejection 
  • Use of expired specimen collection device
  • Missing/invalid patient demographic information
  • No date of collection provided
  • Kit serial number on patient demographic form does not match the kit serial number on the specimen filter paper
  • Specimen too old
  • Insufficient blood
  • Incomplete saturation, contamination, or caked, clotted or layered blood. 

Visit website for complete list. 

Additional InformationAdditional information for specimen collection:


Last updated May 10, 2022