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:
- panel neurofibromatosis type 1 / legius syndrome (NF1, SPRED1) ¹
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
