Gene

MYBPC1 - distal arthrogryposis type 1B

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 575

MYBPC1 - distal arthrogryposis type 1B



€ 575

MYBPC1 - distal arthrogryposis type 1B

This test is available for the following conditions:

  • Conditions > Skin > Distal arthrogryposis
  • Conditions > Skeletal > Distal arthrogryposis

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES fetal akinesia (99.2% **)
  • WES Mendelian inherited 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: 160794
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 575
Gene

MYH3 - distal arthrogryposis type 2A/2B

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 649

MYH3 - distal arthrogryposis type 2A/2B



€ 649

MYH3 - distal arthrogryposis type 2A/2B

This test is available for the following conditions:

  • Conditions > Skin > Distal arthrogryposis
  • Conditions > Skeletal > Distal arthrogryposis

This product is also part of the following panels:

  • WES fetal akinesia (98.3% **)
  • WES Mendelian inherited disorders (98.3% **)
  • WES muscle disorders (98.3% **)
  • WES short stature/skeletal dysplasia (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: 193700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 649
Gene

TPM2 - distal arthrogryposis type 1/2B

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

TPM2 - distal arthrogryposis type 1/2B



€ 394

TPM2 - distal arthrogryposis type 1/2B

This test is available for the following conditions:

  • Conditions > Skin > Distal arthrogryposis
  • Conditions > Skeletal > Distal arthrogryposis

This product is also part of the following panels:

  • WES fetal akinesia (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)
  • WES muscle 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: 190990
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 394