CLCNKB - Bartter syndrome type 3 (MLPA)

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Bartter syndrome

This product is often ordered in combination with:

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (97.1% **)
  • WES renal 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

  • Deletion/duplication analysis (MLPA)

OMIM: 602023
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 400

Gene

BSND - Bartter syndrome type 4, infantile with neurosens. Deafness

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

BSND - Bartter syndrome type 4, infantile with neurosens. Deafness



€ 345

BSND - Bartter syndrome type 4, infantile with neurosens. Deafness

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Bartter syndrome

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (99.9% **)
  • WES Mendelian inherited disorders (99.9% **)
  • WES renal 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
  • Deletion/duplication analysis (MLPA)

OMIM: 606412
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 345
Gene

CASR - Bartter syndrome type 5, autosomal dominant

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

CASR - Bartter syndrome type 5, autosomal dominant



€ 386

CASR - Bartter syndrome type 5, autosomal dominant

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Bartter syndrome

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (99.7% **)
  • WES renal 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: 601199
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 386
Gene

CLCNKB - Bartter syndrome type 3 (classic)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 451

CLCNKB - Bartter syndrome type 3 (classic)



€ 451

CLCNKB - Bartter syndrome type 3 (classic)

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Bartter syndrome

This product is often ordered in combination with:

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (97.1% **)
  • WES renal 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
Remarks
Deletion/duplication (MLPA) analysis can be ordered seperately

OMIM: 602023
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 451
Gene

KCNJ1 - Bartter syndrome type 2, antenataal

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

KCNJ1 - Bartter syndrome type 2, antenataal



€ 369

KCNJ1 - Bartter syndrome type 2, antenataal

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Bartter syndrome

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • 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
  • Deletion/duplication analysis (MLPA)

OMIM: 600359
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

SLC12A1 - Bartter syndrome type 1, antenatal

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

SLC12A1 - Bartter syndrome type 1, antenatal



€ 542

SLC12A1 - Bartter syndrome type 1, antenatal

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Bartter syndrome

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (99.8% **)
  • WES metabolic disorders (99.8% **)
  • WES renal disorders (99.8% **)

** % 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: 600839
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 542
MLPA

CLCNKB - Bartter syndrome type 3 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

CLCNKB - Bartter syndrome type 3 (MLPA)



€ 400