Lowe oculocerebrorenal syndrome

OCRL - Lowe oculocerebrorenal syndrome

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Lowe oculocerebrorenal syndrome

This product is also part of the following panels:

• Ciliopathies panel
• Hemostatic/thrombotic disorders panel
• Intellectual disability panel
• Mendelian inherited disorders panel
• Metabolic disorders panel
• Renal disorders panel
• Vision 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: 300535
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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