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DIS3L2 - Perlman syndrome

This test is available for the following conditions:

Conditions > Multiple congenital anomalies (MCA) > Perlman syndrome

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Hereditary cancer panel
Intellectual disability panel with genome wide CNV analysis
Mendelian inherited disorders panel with genome wide CNV analysis
Tall stature 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: 614184
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 484

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- Radboudumc & MaasrichtUMC+

Perlman syndrome

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Gene

DIS3L2 - Perlman syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Performing laboratory
Radboudumc

€ 484

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DIS3L2 - Perlman syndrome

GEN

complete analysis

targeted analysis of a familial mutation

€ 484

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