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:

  • Fetal akinesia panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel

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

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:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel

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:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis

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