NSD1 - Sotos syndrome type 1
This test is available for the following conditions:
- Conditions > Intellectual Disability > Sotos syndrome
- Conditions > Hearing impairment > Sotos syndrome
This product is also part of the following panels:
- Congenital heartdisease panel¹
- Craniofacial anomalies panel
- Heart disorders panel¹
- Hereditary cancer panel
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic disorders panel
- Short stature/skeletal dysplasia panel
- Skin disorders panel¹
- Tall stature panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
606681
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane