Adrenoleukodystrophy

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

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