PEX7 - Rhizomelic chondrodysplasia punctata, type 1

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Chondrodysplasia punctata

This product is also part of the following panels:

** % 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: 601757
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 393

Products Conditions Multiple congenital anomalies (MCA) Chondrodysplasia punctata
Gene

EBP - chondrodysplasia punctata X-linked, type 2 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 320

EBP - chondrodysplasia punctata X-linked, type 2 *



€ 320

EBP - chondrodysplasia punctata X-linked, type 2 *

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Chondrodysplasia punctata

This product is also part of the following panels:

** % 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: 300205
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 320
Gene

PEX7 - Rhizomelic chondrodysplasia punctata, type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 393

PEX7 - Rhizomelic chondrodysplasia punctata, type 1



€ 393