Marinesco-Sjögren syndrome

SIL1 - Marinesco-Sjögren syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Marinesco-Sjögren syndrome
• Conditions > Neurological > Marinesco-Sjögren syndrome
• Conditions > Vision impairment / blindness > Marinesco-Sjögren syndrome

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Intellectual disability / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Muscle 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: 608005
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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