X-Linked Adrenoleukodystrophy via the ABCD1 Gene
Use
This test is designed for individuals with a clinical or suspected diagnosis of X-linked adrenoleukodystrophy (X-ALD). It is particularly relevant for males identified to be at risk through family screening or positive newborn screening results, as well as females with a family history of X-ALD, especially those over age 40.
Special Instructions
This test employs NGS with CNV performed on either the Exome or Genome platform. Specimens can be sourced from blood, DNA, buccal, saliva, or tissue for the Exome platform, and from blood or DNA for the Genome platform.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration. It is developed and validated in compliance with CAP and CLIA regulations by PreventionGenetics. It is important to note that the performance characteristics and limitations are subject to these regulatory frameworks.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided