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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 G-1B
Test Description 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: