AADC - Aromatic L-amino acid decarboxylase deficiency

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Aromatic L-amino acid decarboxylase deficiency

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES metabolic disorders (100.0% *)
  • WES movement disorders (100.0% *)

* % 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: 608643
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

AADC - Aromatic L-amino acid decarboxylase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

AADC - Aromatic L-amino acid decarboxylase deficiency



€ 725