Neurofibromatosis

panel neurofibromatosis type 1 / legius syndrome (NF1, SPRED1) ¹

This test is available for the following conditions:

• Conditions > Intellectual Disability > Legius syndrome
• Conditions > Multiple congenital anomalies (MCA) > Legius syndrome
• Conditions > Skin > Neurofibromatosis
• Conditions > Neurological > Neurofibromatosis
• Conditions > Oncogenetics > Neurofibromatosis

Turnaround time
8 weeks

Method

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

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA

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NF1 - neurofibromatosis type 1 ¹

This test is available for the following conditions:

• Conditions > Skin > Neurofibromatosis
• Conditions > Neurological > Neurofibromatosis
• Conditions > Oncogenetics > Neurofibromatosis

This product is also part of the following panels:

• Congenital heartdisease panel¹
• Heart disorders panel¹
• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• 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
• Noonan syndrome / RASopathy panel
• panel neurofibromatosis type 1 / legius syndrome (NF1, SPRED1) ¹
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• 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: 613113
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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NF2 - neurofibromatosis type 2

This test is available for the following conditions:

• Conditions > Skin > Neurofibromatosis
• Conditions > Neurological > Neurofibromatosis
• Conditions > Oncogenetics > Neurofibromatosis

This product is also part of the following panels:

• Hereditary cancer panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel

Turnaround time
3 weeks

Method

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

OMIM: 607379
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane

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