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:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (83.2% *)
- WES hearing impairment (including GJB2) (83.2% *)
- WES intellectual disability (83.2% *)
- WES Mendelian inherited disorders (83.2% *)
- WES movement disorders (83.2% *)
- WES orofacial clefting (83.2% *)
- WES short stature/skeletal dysplasia (83.2% *)
- WES skin disorders¹ (83.2% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % 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:
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:
- WES craniofacial anomalies (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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
"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:
- WES craniofacial anomalies (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
606847
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
