Fabry disease

GLA - Fabry disease ¹

This test is available for the following conditions:

• Conditions > Cardiovascular > Fabry disease

This product is also part of the following panels:

• Hearing impairment panel (including GJB2)
• Heart disorders panel¹
• Hypertrophic cardiomyopathy panel¹
• Lymphatic anomalies panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Neurological pain disorders panel¹
• Polyneuropathies panel¹
• Renal disorders panel
• Skin disorders panel¹
• Small fibre neuropathy panel¹

Turnaround time
Complete analysis & Targeted analysis: 4 weeks

Method

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

OMIM: 300644
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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