GALT Gene Sequencing and Del/Dup
Use
This test is used for carrier and diagnostic testing for GALT‑related galactosemia. It detects pathogenic variants in the GALT gene, including both sequence changes and deletion/duplication events, to support the diagnosis of classic or clinical variant galactosemia and assessment of carrier status. Establishing a molecular diagnosis may guide clinical management, enable family planning, and facilitate early intervention where applicable. Clinical context typically includes individuals with decreased GALT enzyme activity or a family history of galactosemia.
Special Instructions
Variants of uncertain significance (VUS) will be reported unless a VUS opt‑out is indicated on the requisition form. If requesting full gene sequencing for multiple genes beyond GALT, consider ordering broader panels (e.g., GeneSeq® PLUS).
Limitations
Potential limitations include the possibility of false positive or false negative results due to rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue‑specific mosaicism, or sample mislabeling. Deletion/duplication detection may require quantitative methodologies (e.g., MLPA or qPCR) and should be confirmed or discussed with GeneDx when clinically indicated.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
EDTA tube (1‑5 mL whole blood)
Collection Instructions
Ship overnight at ambient temperature (use cool pack in hot weather); specimens may be refrigerated for up to one week before shipping.
Other tests from different labs that may be relevant