Gene

ATP7A - Menkes disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 500

ATP7A - Menkes disease



€ 500

ATP7A - Menkes disease

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Menkes disease
  • Conditions > Neurological > Menkes disease

This product is also part of the following panels:

  • Epilepsy panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Muscle disorders panel
  • Neuropathies panel¹
  • Skin disorders panel¹

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

Method

  • Deletion/duplication analysis (MLPA)
  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 300011
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 500