OBSL1 - 3M syndrome-2

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > 3M Syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 610991
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 493

Gene

CCDC8 - 3M syndrome type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

CCDC8 - 3M syndrome type 3



€ 344

CCDC8 - 3M syndrome type 3

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > 3M Syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 20105
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

CUL7 - 3M syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 493

CUL7 - 3M syndrome type 1



€ 493

CUL7 - 3M syndrome type 1

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > 3M Syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 609577
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 493
Gene

OBSL1 - 3M syndrome-2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 493

OBSL1 - 3M syndrome-2



€ 493