HEXA - Tay Sachs disease

This test is available for the following conditions:

• Conditions > Neurological > Tay Sachs disease
• Conditions > Vision impairment / blindness > Tay Sachs disease

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

Method

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

OMIM: 2791
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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