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Cystic Fibrosis: Common Mutation Panel

Fee Schedule

Procedure #: BAR0125Z

CPT: 8122

Cystic Fibrosis: Common Mutation Panel Laboratory

Synonym(s): CF DNA
Requisition Form G-1B
Test Description Cystic fibrosis transmembrane conductance regulator (CFTR) mutation panel.
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 whole blood on DSHS approved filter paper card.
  • 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.
Method Multiplex polymerase chain reactions and fluorescent signal detection
Turn-around Time Within 4 working days
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
  • No date of collection provided
  • Missing/invalid patient demographic information
  • 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.

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Additional Information  Additional information for specimen collection: