CEP290 - Joubert syndrome type 5

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Joubert syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Joubert 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

AHI1 - Joubert syndrome type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 534

AHI1 - Joubert syndrome type 3



€ 534

AHI1 - Joubert syndrome type 3

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Joubert syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome

This product is also part of the following panels:

  • WES ciliopathies (98.3% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (98.3% **)
  • WES Mendelian inherited disorders (98.3% **)
  • WES renal disorders (98.3% **)
  • WES vision disorders (98.3% **)

** % 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: 608894
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 534
Gene

CEP290 - Joubert syndrome type 5

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

CEP290 - Joubert syndrome type 5



€ 781
Gene

KIAA0586 - Joubert syndrome type 23

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 591

KIAA0586 - Joubert syndrome type 23



€ 591

KIAA0586 - Joubert syndrome type 23

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Joubert syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome

This product is also part of the following panels:

  • WES ciliopathies (93.0% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (93.0% **)
  • WES Mendelian inherited disorders (93.0% **)

** % 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: 610178
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 591
Gene

KIF7 - Joubert syndrome type 12

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 460

KIF7 - Joubert syndrome type 12



€ 460

KIF7 - Joubert syndrome type 12

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Joubert syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome

This product is also part of the following panels:

  • WES ciliopathies (93.5% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (93.5% **)
  • WES Mendelian inherited disorders (93.5% **)
  • WES renal disorders (93.5% **)
  • WES short stature/skeletal dysplasia (93.5% **)
  • WES vision disorders (93.5% **)

** % 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: 611254
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 460
Gene

MKS1 - Joubert syndrome 28

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 459

MKS1 - Joubert syndrome 28



€ 459

MKS1 - Joubert syndrome 28

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Joubert syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
  • Conditions > Hearing impairment > Joubert syndrome

This product is also part of the following panels:

  • WES ciliopathies (97.8% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (97.8% **)
  • WES Mendelian inherited disorders (97.8% **)
  • WES renal disorders (97.8% **)
  • WES vision disorders (97.8% **)

** % 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: 609883
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 459
Gene

NPHP1 - Joubert syndrome type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 476

NPHP1 - Joubert syndrome type 4



€ 476

NPHP1 - Joubert syndrome type 4

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Joubert syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome

This product is also part of the following panels:

  • WES ciliopathies (98.5% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (98.5% **)
  • WES Mendelian inherited disorders (98.5% **)
  • WES renal disorders (98.5% **)
  • WES vision disorders (98.5% **)

** % 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: 607100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 476
Gene

OFD1 - Joubert syndrome type 10

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509

OFD1 - Joubert syndrome type 10



€ 509

OFD1 - Joubert syndrome type 10

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Joubert syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome
  • Conditions > Hearing impairment > Joubert syndrome

This product is also part of the following panels:

  • WES ciliopathies (70.8% **)
  • WES craniofacial anomalies (70.8% **)
  • WES epilepsy (70.8% **)
  • WES intellectual disability (70.8% **)
  • WES Mendelian inherited disorders (70.8% **)
  • WES renal disorders (70.8% **)
  • WES short stature/skeletal dysplasia (70.8% **)
  • WES skin disorders¹ (70.8% **)
  • WES vision disorders (70.8% **)

** % 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: 300804
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 509
Gene

TCTN1 - Joubert syndrome type 13

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

TCTN1 - Joubert syndrome type 13



€ 435

TCTN1 - Joubert syndrome type 13

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Joubert syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome

This product is also part of the following panels:

  • WES ciliopathies (92.3% **)
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (92.3% **)
  • WES renal disorders (92.3% **)
  • WES vision disorders (92.3% **)

** % 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: 609863
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

TMEM67 - Joubert syndrome type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509

TMEM67 - Joubert syndrome type 6



€ 509

TMEM67 - Joubert syndrome type 6

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Joubert syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Joubert syndrome

This product is also part of the following panels:

  • WES ciliopathies (94.6% **)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (94.6% **)
  • WES Mendelian inherited disorders (94.6% **)
  • WES movement disorders (94.6% **)
  • WES renal disorders (94.6% **)
  • WES vision disorders (94.6% **)

** % 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: 609884
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 509