STIL - autosomal recessive primary microcephaly type 7

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephaly, primary

This product is also part of the following panels:

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

* % 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)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 181590
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435

Gene

ASPM - autosomal recessive primary microcephaly type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 641

ASPM - autosomal recessive primary microcephaly type 5



€ 641

ASPM - autosomal recessive primary microcephaly type 5

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephaly, primary

This product is also part of the following panels:

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

* % 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)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 608716
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 641
Gene

CDK5RAP2 - autosomal recessive primary microcephaly type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 624

CDK5RAP2 - autosomal recessive primary microcephaly type 3



€ 624

CDK5RAP2 - autosomal recessive primary microcephaly type 3

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephaly, primary

This product is also part of the following panels:

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

* % 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)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 608201
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 624
Gene

CENPJ - autosomal recessive primary microcephaly type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

CENPJ - autosomal recessive primary microcephaly type 6



€ 435

CENPJ - autosomal recessive primary microcephaly type 6

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephaly, primary

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • 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)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 609279
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

CEP152 - autosomal recessive primary microcephaly type 9

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 542

CEP152 - autosomal recessive primary microcephaly type 9



€ 542

CEP152 - autosomal recessive primary microcephaly type 9

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephaly, primary

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • 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)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 613529
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 542
Gene

MCPH1 - autosomal recessive primary microcephaly type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

MCPH1 - autosomal recessive primary microcephaly type 1



€ 443

MCPH1 - autosomal recessive primary microcephaly type 1

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephaly, primary

This product is also part of the following panels:

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

* % 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)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 607117
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443
Gene

STIL - autosomal recessive primary microcephaly type 7

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

STIL - autosomal recessive primary microcephaly type 7



€ 435
Gene

WDR62 - autosomal recessive primary microcephaly type 2

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

WDR62 - autosomal recessive primary microcephaly type 2



€ 534

WDR62 - autosomal recessive primary microcephaly type 2

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephaly, primary

This product is also part of the following panels:

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

* % 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)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 613583
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 534
Gene

ZNF335 - autosomal recessive primary microcephaly type 10

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

ZNF335 - autosomal recessive primary microcephaly type 10



€ 492

ZNF335 - autosomal recessive primary microcephaly type 10

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephaly, primary

This product is also part of the following panels:

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

* % 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: 610827
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492