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
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
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
FGFR2 - craniosynostosis ¹
This test is available for the following conditions:
- Conditions > Skeletal > Craniosynostosis
This product is also part of the following panels:
- panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) ¹
- WES craniofacial anomalies (% *)
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES orofacial clefting (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
* % 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
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:
- WES craniofacial anomalies (% *)
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
- WES hypogonadotropic hypogonadism (Kallmann) (% *)
- 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
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:
- panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) ¹
- WES craniofacial anomalies (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES orofacial clefting (% *)
- 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)
OMIM:
601622
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane