NFIX - Sotos syndrome type 2
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:
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES short stature/skeletal dysplasia (% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
164005
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- WES congenital heartdisease ¹ (% *)
- WES craniofacial anomalies (% *)
- WES heart disorders¹ (% *)
- WES hereditary cancer (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
606681
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane