TRAPPC9 - autosomal recessive intellectual disability type 13

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • 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: 613192
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 501

Gene

CRADD - autosomal recessive intellectual disability type 34

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

CRADD - autosomal recessive intellectual disability type 34



€ 336

CRADD - autosomal recessive intellectual disability type 34

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (98.2% **)
  • WES Mendelian inherited disorders (98.2% **)

** % 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: 603454
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

PRSS12 - autosomal recessive intellectual disability type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 418

PRSS12 - autosomal recessive intellectual disability type 1



€ 418

PRSS12 - autosomal recessive intellectual disability type 1

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.6% **)
  • WES Mendelian inherited disorders (99.6% **)

** % 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: 606709
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 418
Gene

SLC6A17 - autosomal recessive intellectual disability type 48

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

SLC6A17 - autosomal recessive intellectual disability type 48



€ 410

SLC6A17 - autosomal recessive intellectual disability type 48

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (100.0% **)
  • WES Mendelian inherited disorders (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: 616269
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410
Gene

SOBP - intellectual disability with anterior maxillary protrusion and strabismus

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 393

SOBP - intellectual disability with anterior maxillary protrusion and strabismus



€ 393

SOBP - intellectual disability with anterior maxillary protrusion and strabismus

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (97.8% **)
  • WES Mendelian inherited disorders (97.8% **)

** % 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: 613671
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 393
Gene

TRAPPC9 - autosomal recessive intellectual disability type 13

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

TRAPPC9 - autosomal recessive intellectual disability type 13



€ 501
Gene

TTI2 - autosomal recessive intellectual disability type 39

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

TTI2 - autosomal recessive intellectual disability type 39



€ 377

TTI2 - autosomal recessive intellectual disability type 39

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Intellectual disability, autosomal recessive
  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.9% **)
  • WES Mendelian inherited disorders (99.9% **)
  • WES skin disorders¹ (99.9% **)

** % 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: 614426
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377