POMGNT1 - muscle-eye-brain disease

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Muscle-Eye-Brain disease
  • Conditions > Neuromuscular > Muscle-Eye-Brain disease

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (% *)
  • WES Mendelian inherited disorders (% *)
  • WES metabolic disorders (% *)
  • WES muscle disorders (% *)
  • WES vision disorders (% *)

* % 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: 606822
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443

Gene

POMGNT1 - muscle-eye-brain disease

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

POMGNT1 - muscle-eye-brain disease



€ 443