Craniosynostosis

panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) ¹

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

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FGFR1 (exon 7) - craniosynostosis ¹

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

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FGFR2 - craniosynostosis ¹

This test is available for the following conditions:

• Conditions > Skeletal > Craniosynostosis

This product is also part of the following panels:

• Craniofacial anomalies panel with genome wide CNV analysis
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Orofacial clefting panel with genome wide CNV analysis
• panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) ¹
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹

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

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FGFR3 (exon 6) - craniosynostosis ¹

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

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TWIST1 - craniosynostosis ¹

This test is available for the following conditions:

• Conditions > Skeletal > Craniosynostosis

This product is also part of the following panels:

• Craniofacial anomalies panel with genome wide CNV analysis
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Orofacial clefting panel with genome wide CNV analysis
• panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) ¹
• Short stature/skeletal dysplasia panel with genome wide CNV analysis

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

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