Schwannomatosis

LZTR1 - Schwannomatosis type 2

This test is available for the following conditions:

• Conditions > Oncogenetics > Schwannomatosis

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Heart disorders panel¹
• Hemostatic/thrombotic disorders panel
• Hereditary cancer panel
• Intellectual disability panel with genome wide CNV analysis
• Lymphatic anomalies panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Neurological pain disorders panel¹
• Noonan syndrome / RASopathy panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis

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

Method

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

OMIM: 600574
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SMARCB1 - Schwannomatosis type 1

This test is available for the following conditions:

• Conditions > Oncogenetics > Schwannomatosis

This product is also part of the following panels:

• Hereditary cancer panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Neurological pain disorders panel¹
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹
• Sonic hedgehog medulloblastoma panel

Turnaround time
3 weeks

Method

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

OMIM: 601607
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane

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