NL
POLR1C - Treacher Collins syndrome type 3
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Treacher Collins-Franceschetti syndrome
- Conditions > Hearing impairment > Treacher Collins-Franceschetti syndrome
- Conditions > Vision impairment / blindness > Treacher Collins-Franceschetti syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Hearing impairment panel (including GJB2)
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Orofacial clefting panel with genome wide CNV analysis
- 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
OMIM:
610060
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
POLR1D - Treacher Collins syndrome type 2
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Treacher Collins-Franceschetti syndrome
- Conditions > Hearing impairment > Treacher Collins-Franceschetti syndrome
- Conditions > Vision impairment / blindness > Treacher Collins-Franceschetti syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- 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
OMIM:
613715
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TCOF1 - Treacher Collins syndrome type 1
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Treacher Collins-Franceschetti syndrome
- Conditions > Hearing impairment > Treacher Collins-Franceschetti syndrome
- Conditions > Vision impairment / blindness > Treacher Collins-Franceschetti syndrome
This product is often ordered in combination with:
This product is also part of the following panels:
- Craniofacial anomalies panel with genome wide CNV analysis
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting 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
"Evaluation showed that deletions are very rare. If a strong suspicion remains, MLPA analysis can still be performed."
OMIM:
606847
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TCOF1 - Treacher Collins syndrome type 1 (MLPA)
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Treacher Collins-Franceschetti syndrome
- Conditions > Hearing impairment > Treacher Collins-Franceschetti syndrome
- Conditions > Vision impairment / blindness > Treacher Collins-Franceschetti syndrome
This product is often ordered in combination with:
This product is also part of the following panels:
- Craniofacial anomalies panel with genome wide CNV analysis
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting 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
- Deletion/duplication analysis (MLPA)
OMIM:
606847
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
