Menkes disease

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
• Polyneuropathies 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

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