NL
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
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 / developmental delay 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
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)
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
TCF12 - craniosynostosis, type 3
This test is available for the following conditions:
- Conditions > Skeletal > Craniosynostosis
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hypogonadotropic hypogonadism (Kallmann) panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
OMIM:
600480
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 / developmental delay 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
