Myasthenic syndrome congenital

CHAT - congenital presynaptic myasthenic syndrome type 6

This test is available for the following conditions:

• Conditions > Congenital disorder of glycosylation > Myasthenic syndrome congenital

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Fetal akinesia panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Muscle 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: 118490
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GFPT1 - Congenital myasthenia

This test is available for the following conditions:

• Conditions > Congenital disorder of glycosylation > Myasthenic syndrome congenital

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Muscle 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: 138292
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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