Panel

panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) *

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 501

panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) *



€ 501

panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) *

This test is available for the following conditions:

  • Conditions > Skeletal > Craniosynostosis

Turnaround time
8 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA




€ 501
Gene

FGFR1 (exon 7) - craniosynostosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 320

FGFR1 (exon 7) - craniosynostosis *



€ 320

FGFR1 (exon 7) - craniosynostosis *

This test is available for the following conditions:

  • Conditions > Skeletal > Craniosynostosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of selected exons and flanking intron-exon boundaries
Remarks
Regarding FGRF1 sequencing only a targetted amplicon (exon 7) will be analysed

OMIM: 136350
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 320
Gene

FGFR2 - craniosynostosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 525

FGFR2 - craniosynostosis *



€ 525

FGFR2 - craniosynostosis *

This test is available for the following conditions:

  • Conditions > Skeletal > Craniosynostosis

This product is also part of the following panels:

** % 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: 176943
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 525
Gene

FGFR3 (exon 6) - craniosynostosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 320

FGFR3 (exon 6) - craniosynostosis *



€ 320

FGFR3 (exon 6) - craniosynostosis *

This test is available for the following conditions:

  • Conditions > Skeletal > Craniosynostosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of selected exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)
Remarks
Regarding sequencing for FGFR3 only a targetted amplicon (exon 6) will be analysed.

OMIM: 134934
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 320
Gene

TCF12 - craniosynostosis, type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 476

TCF12 - craniosynostosis, type 3



€ 476

TCF12 - craniosynostosis, type 3

This test is available for the following conditions:

  • Conditions > Skeletal > Craniosynostosis

This product is also part of the following panels:

** % 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: 600480
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 476
Gene

TWIST1 - craniosynostosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 385

TWIST1 - craniosynostosis *



€ 385

TWIST1 - craniosynostosis *

This test is available for the following conditions:

  • Conditions > Skeletal > Craniosynostosis

This product is also part of the following panels:

** % 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: 601622
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385