DYNC1H1 - autosomal dominant intellectual disability type 13

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, autosomal dominant

This product is also part of the following panels:

  • Epilepsy panel
  • Intellectual disability / developmental delay panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel
  • Neurological pain disorders panel¹
  • Polyneuropathies panel¹

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

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600112
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 732

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