Legius syndrome

SPRED1 - Legius syndroom ¹

This test is available for the following conditions:

• Conditions > Intellectual Disability > Legius syndrome
• Conditions > Multiple congenital anomalies (MCA) > Legius syndrome

This product is also part of the following panels:

• Hereditary cancer panel
• Intellectual disability panel
• Mendelian inherited disorders panel
• Noonan syndrome / RASopathy panel
• panel neurofibromatosis type 1 / legius syndrome (NF1, SPRED1) ¹
• Short stature/skeletal dysplasia panel
• Skin disorders panel¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

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

OMIM: 609291
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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