Gene

ADAMTS10 - autosomal recessive Weill-Marchesani syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

ADAMTS10 - autosomal recessive Weill-Marchesani syndrome type 1



€ 443

ADAMTS10 - autosomal recessive Weill-Marchesani syndrome type 1

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Weill-Marchesani syndrome
  • Conditions > Vision impairment / blindness > Weill-Marchesani syndrome

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (100.0% *)
  • WES mitochondrial disorders (100.0% *)
  • WES short stature/skeletal dysplasia (100.0% *)
  • WES skin disorders¹ (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: 608990
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443
Gene

LTBP2 - autosomal recessive Weill-Marchesani syndrome type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 583

LTBP2 - autosomal recessive Weill-Marchesani syndrome type 3



€ 583

LTBP2 - autosomal recessive Weill-Marchesani syndrome type 3

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Weill-Marchesani syndrome
  • Conditions > Vision impairment / blindness > Weill-Marchesani syndrome

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (100.0% *)
  • WES short stature/skeletal dysplasia (100.0% *)
  • WES vision 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: 602091
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 583