| 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
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| Minimum Volume/Size Required |
- One ½ inch dried filter paper blood spot
- 1mL whole blood
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| 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.
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| 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.
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| 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.
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| 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:
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