TTC8 - Bardet-Biedl syndrome type 8

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (98.8% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (98.8% **)
  • WES Mendelian inherited disorders (98.8% **)
  • WES renal disorders (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: 608132
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443

Gene

ARL6 - Bardet-Biedl syndrome type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

ARL6 - Bardet-Biedl syndrome type 3



€ 385

ARL6 - Bardet-Biedl syndrome type 3

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (98.2% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (98.2% **)
  • WES Mendelian inherited disorders (98.2% **)
  • WES renal disorders (98.2% **)
  • WES vision disorders (98.2% **)

** % 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: 608845
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

BBS1 - Bardet-Biedl syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

BBS1 - Bardet-Biedl syndrome type 1



€ 443

BBS1 - Bardet-Biedl syndrome type 1

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (100.0% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES renal disorders (100.0% **)
  • WES vision disorders (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: 209901
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443
Gene

BBS10 - Bardet-Biedl syndroom type 10

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

BBS10 - Bardet-Biedl syndroom type 10



€ 369

BBS10 - Bardet-Biedl syndroom type 10

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (99.9% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.9% **)
  • WES Mendelian inherited disorders (99.9% **)
  • WES renal disorders (99.9% **)
  • WES vision disorders (99.9% **)

** % 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: 610148
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

BBS12 - Bardet-Biedl syndrome type 12

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

BBS12 - Bardet-Biedl syndrome type 12



€ 369

BBS12 - Bardet-Biedl syndrome type 12

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (100.0% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES renal disorders (100.0% **)
  • WES vision disorders (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: 610683
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

BBS2 - Bardet-Biedl syndrome type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

BBS2 - Bardet-Biedl syndrome type 2



€ 468

BBS2 - Bardet-Biedl syndrome type 2

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (99.6% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.6% **)
  • WES Mendelian inherited disorders (99.6% **)
  • WES renal disorders (99.6% **)
  • WES vision disorders (99.6% **)

** % 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: 606151
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468
Gene

BBS4 - Bardet-Biedl syndrome type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

BBS4 - Bardet-Biedl syndrome type 4



€ 435

BBS4 - Bardet-Biedl syndrome type 4

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (99.2% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.2% **)
  • WES Mendelian inherited disorders (99.2% **)
  • WES renal disorders (99.2% **)
  • WES vision disorders (99.2% **)

** % 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: 600374
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

BBS5 - Bardet-Biedl syndrome type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 394

BBS5 - Bardet-Biedl syndrome type 5



€ 394

BBS5 - Bardet-Biedl syndrome type 5

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (93.3% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (93.3% **)
  • WES Mendelian inherited disorders (93.3% **)
  • WES renal disorders (93.3% **)
  • WES vision disorders (93.3% **)

** % 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: 603650
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 394
Gene

BBS7 - Bardet-Biedl syndrome type 12

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

BBS7 - Bardet-Biedl syndrome type 12



€ 468

BBS7 - Bardet-Biedl syndrome type 12

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (96.5% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (96.5% **)
  • WES Mendelian inherited disorders (96.5% **)
  • WES renal disorders (96.5% **)
  • WES vision disorders (96.5% **)

** % 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: 607590
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468
Gene

BBS9 - Bardet-Biedl syndroom type 9

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 500

BBS9 - Bardet-Biedl syndroom type 9



€ 500

BBS9 - Bardet-Biedl syndroom type 9

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (94.4% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (94.4% **)
  • WES Mendelian inherited disorders (94.4% **)
  • WES renal disorders (94.4% **)
  • WES vision disorders (94.4% **)

** % 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: 607968
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 500
Gene

CEP290 - Bardet-Biedl syndrome type 14

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 781

CEP290 - Bardet-Biedl syndrome type 14



€ 781

CEP290 - Bardet-Biedl syndrome type 14

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (91.7% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (91.7% **)
  • WES Mendelian inherited disorders (91.7% **)
  • WES renal disorders (91.7% **)
  • WES vision disorders (91.7% **)

** % 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: 610142
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 781
Gene

LZTFL1 - Bardet-Biedl syndrome type 17

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 393

LZTFL1 - Bardet-Biedl syndrome type 17



€ 393

LZTFL1 - Bardet-Biedl syndrome type 17

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (99.2% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.2% **)
  • WES Mendelian inherited disorders (99.2% **)
  • WES renal disorders (99.2% **)
  • WES vision disorders (99.2% **)

** % 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: 20140
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 393
Gene

MKKS - Bardet-Biedl syndrome type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 386

MKKS - Bardet-Biedl syndrome type 6



€ 386

MKKS - Bardet-Biedl syndrome type 6

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (83.2% **)
  • WES comprehensive preconception carrier test ¹
  • WES disorders of sex development (83.2% **)
  • WES intellectual disability (83.2% **)
  • WES Mendelian inherited disorders (83.2% **)
  • WES renal disorders (83.2% **)
  • WES vision disorders (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: 604896
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 386
Gene

TRIM32 - Bardet Biedl syndrome type 11

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

TRIM32 - Bardet Biedl syndrome type 11



€ 369

TRIM32 - Bardet Biedl syndrome type 11

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (100.0% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES muscle disorders (100.0% **)
  • WES renal disorders (100.0% **)
  • WES skin disorders¹ (100.0% **)
  • WES vision disorders (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: 602290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

TTC8 - Bardet-Biedl syndrome type 8

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

TTC8 - Bardet-Biedl syndrome type 8



€ 443
Gene

WDPCP - Bardet-Biedl syndrome type 15

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

WDPCP - Bardet-Biedl syndrome type 15



€ 468

WDPCP - Bardet-Biedl syndrome type 15

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Bardet-Biedl syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Bardet-Biedl syndrome
  • Conditions > Renal / Nephrological > Bardet-Biedl syndrome
  • Conditions > Vision impairment / blindness > Bardet-Biedl syndrome

This product is also part of the following panels:

  • WES ciliopathies (94.9% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (94.9% **)
  • WES Mendelian inherited disorders (94.9% **)
  • WES vision disorders (94.9% **)

** % 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: 613580
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468