||Galactose-1-phosphate uridyl transferase (GALT) common mutation panel
|Supplemental Information Required
|Performed on Specimens from (sources)
|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.
||EDTA acceptable for whole blood
||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.
||Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS PCR)
||Within 4 working days
- 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 for specimen collection: