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GSS - glutathione synthetase deficiency

This test is available for the following conditions:

Conditions > Intellectual Disability > Glutathione synthetase deficiency
Conditions > Renal / Nephrological > Glutathione synthetase deficiency

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Intellectual disability panel
Mendelian inherited disorders panel
Metabolic disorders panel

Turnaround time
Complete analysis & Targeted analysis: 4 weeks

Method

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

OMIM: 601002
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 410

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- Radboudumc & MaasrichtUMC+

Glutathione synthetase deficiency

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Gene

GSS - glutathione synthetase deficiency

Turnaround time
Complete analysis & Targeted analysis: 4 weeks

Performing laboratory
Radboudumc

€ 410

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GSS - glutathione synthetase deficiency

GEN

complete analysis

targeted analysis of a familial mutation

€ 410

Add Update Remove

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