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:

  • WES comprehensive preconception carrier test ¹
  • WES craniofacial anomalies (99.7% **)
  • WES hearing impairment (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)
  • WES short stature/skeletal dysplasia (99.7% **)
  • WES vision disorders (99.7% **)

** % 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: 120210
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 542

Gene

COL11A1 - autosomal dominant Stickler syndrome type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 616

COL11A1 - autosomal dominant Stickler syndrome type 2



€ 616

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:

  • WES comprehensive preconception carrier test ¹
  • WES craniofacial anomalies (94.0% **)
  • WES hearing impairment (94.0% **)
  • WES Mendelian inherited disorders (94.0% **)
  • WES short stature/skeletal dysplasia (94.0% **)
  • WES vision disorders (94.0% **)

** % 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 selected exons and flanking intron-exon boundaries

OMIM: 120280
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 616
Gene

COL11A1 - Marshall syndrome type 2, autosomal dominant

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 772

COL11A1 - Marshall syndrome type 2, autosomal dominant



€ 772

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:

  • WES comprehensive preconception carrier test ¹
  • WES craniofacial anomalies (94.0% **)
  • WES hearing impairment (94.0% **)
  • WES Mendelian inherited disorders (94.0% **)
  • WES short stature/skeletal dysplasia (94.0% **)
  • WES vision disorders (94.0% **)

** % 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: 120280
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 772
Gene

COL11A2 - autosomal dominant Stickler syndrome type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 616

COL11A2 - autosomal dominant Stickler syndrome type 3



€ 616

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:

  • WES comprehensive preconception carrier test ¹
  • WES craniofacial anomalies (99.4% **)
  • WES hearing impairment (99.4% **)
  • WES Mendelian inherited disorders (99.4% **)
  • WES short stature/skeletal dysplasia (99.4% **)

** % 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: 120290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 616
Gene

COL2A1 - autosomal dominant Stickler syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 616

COL2A1 - autosomal dominant Stickler syndrome type 1



€ 616

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:

  • WES craniofacial anomalies (99.7% **)
  • WES hearing impairment (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)
  • WES short stature/skeletal dysplasia (99.7% **)
  • WES vision disorders (99.7% **)

** % 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: 120140
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 616
Gene

COL9A1 - autosomal recessive Stickler syndrome type4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 542

COL9A1 - autosomal recessive Stickler syndrome type4



€ 542
Gene

COL9A2 - autosomal recessive Stickler syndrome type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

COL9A2 - autosomal recessive Stickler syndrome type 5



€ 550

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:

  • WES comprehensive preconception carrier test ¹
  • WES craniofacial anomalies (98.8% **)
  • WES hearing impairment (98.8% **)
  • WES Mendelian inherited disorders (98.8% **)
  • WES short stature/skeletal dysplasia (98.8% **)
  • WES vision disorders (98.8% **)

** % 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: 120260
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550
Gene

COL9A3 - autosomal recessive Stickler syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 567

COL9A3 - autosomal recessive Stickler syndrome



€ 567

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:

  • WES craniofacial anomalies (96.8% **)
  • WES Mendelian inherited disorders (96.8% **)
  • WES short stature/skeletal dysplasia (96.8% **)

** % 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: 120270
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 567