GeneSeq® PLUS, GALT
Also known as: Galactosemia
Use
This test is used for carrier and diagnostic testing for GALT-related galactosemia.
Special Instructions
Variants of uncertain significance (VUS) will be reported unless VUS opt-out is indicated on the requisition. If requesting full gene sequencing for multiple genes, order GeneSeq® PLUS [482370]. To test fetal specimens, including cord blood, order GeneSeq® PLUS, Fetal Analysis [482389]. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Limitations
Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled sample or erroneous representation of family relationships.
Methodology
NGS
Biomarkers
LOINC Codes
- 42318-6
- 19102-3
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 42318-6
- 53039-4
- 8262-8
- 62385-0
- 55752-0
- 8251-1
- 49549-9
- 75608-0
- 72486-4
- 51969-4
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy; do not eat, drink, smoke or chew gum 30 minutes prior to collection.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |