Galactosemia Common Mutation Panel


Galactosemia Common Mutation Panel

Laboratory Fee Schedule
Procedure #:  BAE0056Z
CPT:  81401


Galactosemia Common Mutation Panel
 Synonym(s):  GALT DNA
 Requisition Form Galactose-1-phosphate uridyl transferase (GALT) common 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 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.
 Method Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS PCR)
 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:



Last updated May 10, 2022