ABCD1 - X-linked adrenoleukodystrophy
This test is available for the following conditions:
- Conditions > Endocrine > Adrenoleukodystrophy
- Conditions > Neurological > Adrenoleukodystrophy
This product is also part of the following panels:
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (99.6% *)
- WES intellectual disability (99.6% *)
- WES intellectual disability (99.6% *)
- WES Mendelian inherited disorders (99.6% *)
- WES metabolic disorders (99.6% *)
- WES movement disorders (99.6% *)
- WES neuropathies¹ (99.6% *)
* % 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: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
300371
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane