Gene

B9D2 - Meckel syndrome type 10

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 345

B9D2 - Meckel syndrome type 10



€ 345

B9D2 - Meckel syndrome type 10

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Meckel syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
  • Conditions > Renal / Nephrological > Meckel syndrome

This product is also part of the following panels:

  • WES ciliopathies (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES renal 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: 611951
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 345
Gene

CC2D2A - Meckel syndrome type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 608

CC2D2A - Meckel syndrome type 6



€ 608

CC2D2A - Meckel syndrome type 6

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Meckel syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
  • Conditions > Renal / Nephrological > Meckel syndrome

This product is also part of the following panels:

  • WES ciliopathies (97.1% **)
  • WES intellectual disability (97.1% **)
  • WES Mendelian inherited disorders (97.1% **)
  • WES renal disorders (97.1% **)
  • WES vision disorders (97.1% **)

** % 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: 612013
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 608
Gene

CEP290 - Meckel syndrome type 4 (Gruber)

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

CEP290 - Meckel syndrome type 4 (Gruber)



€ 781

CEP290 - Meckel syndrome type 4 (Gruber)

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Meckel syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
  • Conditions > Renal / Nephrological > Meckel syndrome

This product is also part of the following panels:

  • WES ciliopathies (91.7% **)
  • 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

MKS1 - Meckel syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 426

MKS1 - Meckel syndrome type 1



€ 426

MKS1 - Meckel syndrome type 1

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Meckel syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
  • Conditions > Renal / Nephrological > Meckel syndrome

This product is also part of the following panels:

  • WES ciliopathies (97.8% **)
  • 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




€ 426
Gene

TMEM67 - Meckel syndrome type 3

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

TMEM67 - Meckel syndrome type 3



€ 509

TMEM67 - Meckel syndrome type 3

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Meckel syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Meckel syndrome
  • Conditions > Renal / Nephrological > Meckel syndrome

This product is also part of the following panels:

  • WES ciliopathies (94.6% **)
  • 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