NL
COL11A1 - autosomal dominant Stickler syndrome type 2
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Stickler syndrome
- Conditions > Hearing impairment > Stickler syndrome
- Conditions > Skeletal > Stickler syndrome
- Conditions > Vision impairment / blindness > Stickler 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
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of selected exons and flanking intron-exon boundaries
OMIM:
120280
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COL11A1 - Marshall syndrome type 2, autosomal dominant
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Stickler syndrome
- Conditions > Hearing impairment > Stickler syndrome
- Conditions > Skeletal > Stickler syndrome
- Conditions > Vision impairment / blindness > Stickler 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
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120280
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COL11A2 - autosomal dominant Stickler syndrome type 3
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Stickler syndrome
- Conditions > Hearing impairment > Stickler syndrome
- Conditions > Skeletal > Stickler syndrome
- Conditions > Vision impairment / blindness > Stickler 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
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COL2A1 - autosomal dominant Stickler syndrome type 1
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Stickler syndrome
- Conditions > Hearing impairment > Stickler syndrome
- Conditions > Skeletal > Stickler syndrome
- Conditions > Vision impairment / blindness > Stickler syndrome
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
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120140
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COL9A1 - autosomal recessive Stickler syndrome type4
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Stickler syndrome
- Conditions > Hearing impairment > Stickler syndrome
- Conditions > Skeletal > Stickler syndrome
- Conditions > Vision impairment / blindness > Stickler 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
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120210
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COL9A2 - autosomal recessive Stickler syndrome type 5
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Stickler syndrome
- Conditions > Hearing impairment > Stickler syndrome
- Conditions > Skeletal > Stickler syndrome
- Conditions > Vision impairment / blindness > Stickler 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
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120260
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COL9A3 - autosomal recessive Stickler syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Stickler syndrome
- Conditions > Hearing impairment > Stickler syndrome
- Conditions > Skeletal > Stickler syndrome
- Conditions > Vision impairment / blindness > Stickler 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
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
120270
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
