Galactose epimerase deficiency

GALE - Galactose epimerase deficiency

This test is available for the following conditions:

• Conditions > Metabolic disorders > Galactose epimerase deficiency

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Hemostatic/thrombotic disorders panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 606953
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---