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