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 (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)

** % 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: 164005
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 394

Gene

NFIX - Sotos syndrome type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 394

NFIX - Sotos syndrome type 2



€ 394
Gene

NSD1 - Sotos syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 534

NSD1 - Sotos syndrome type 1



€ 534

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 craniofacial anomalies (99.8% **)
  • WES hereditary cancer (99.8% **)
  • WES intellectual disability (99.8% **)
  • WES Mendelian inherited disorders (99.8% **)
  • WES metabolic disorders (99.8% **)
  • WES skin disorders¹ (99.8% **)

** % 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: 606681
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 534