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 (97.9% *)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (97.9% *)
  • WES Mendelian inherited disorders (97.9% *)
  • WES renal disorders (97.9% *)
  • WES vision disorders (97.9% *)

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




€ 534

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
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

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 (90.0% *)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (90.0% *)
  • WES Mendelian inherited disorders (90.0% *)
  • WES renal disorders (90.0% *)
  • WES short stature/skeletal dysplasia (90.0% *)
  • WES vision disorders (90.0% *)

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




€ 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 (93.1% *)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (93.1% *)
  • WES Mendelian inherited disorders (93.1% *)
  • WES short stature/skeletal dysplasia (93.1% *)

* % 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 (90.6% *)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (90.6% *)
  • WES Mendelian inherited disorders (90.6% *)
  • WES renal disorders (90.6% *)
  • WES short stature/skeletal dysplasia (90.6% *)
  • WES vision disorders (90.6% *)

* % 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: 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 (97.9% *)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (97.9% *)
  • WES Mendelian inherited disorders (97.9% *)
  • WES renal disorders (97.9% *)
  • WES short stature/skeletal dysplasia (97.9% *)
  • WES vision disorders (97.9% *)

* % 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: 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 (99.0% *)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.0% *)
  • WES Mendelian inherited disorders (99.0% *)
  • WES renal disorders (99.0% *)
  • WES vision disorders (99.0% *)

* % 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: 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 (73.7% *)
  • WES craniofacial anomalies (73.7% *)
  • WES epilepsy (73.7% *)
  • WES intellectual disability (73.7% *)
  • WES Mendelian inherited disorders (73.7% *)
  • WES renal disorders (73.7% *)
  • WES short stature/skeletal dysplasia (73.7% *)
  • WES skin disorders¹ (73.7% *)
  • WES vision disorders (73.7% *)

* % 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: 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 (93.0% *)
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (93.0% *)
  • WES renal disorders (93.0% *)
  • WES vision 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: 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 (95.0% *)
  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (95.0% *)
  • WES liver disorders (95.0% *)
  • WES Mendelian inherited disorders (95.0% *)
  • WES movement disorders (95.0% *)
  • WES renal disorders (95.0% *)
  • WES short stature/skeletal dysplasia (95.0% *)
  • WES vision disorders (95.0% *)

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




€ 509