Leukodystrophy Xpanded® Panel
Use
This panel is intended to evaluate patients presenting with leukodystrophy by sequencing and deletion/duplication analysis of a broad set of genes (300+ genes, trio testing preferred) to aid in diagnosis of underlying genetic etiologies of white matter disorders.
Special Instructions
Not provided.
Limitations
Technical limitations: may not detect certain types of variants outside the genes or variant types included (e.g., deep intronic, structural variants not targeted). Test is contingent upon completeness of clinical information; cases without adequate documentation may be delayed or require further review.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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