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
Trio testing (patient plus parents) is preferred. Clinic notes must be submitted within two weeks of sample receipt to justify use of exome/genome testing, including for Xpanded® panels. Required items include completed provider-signed and patient/guardian–signed order forms, pedigrees, family history, and appropriate clinical documentation.
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
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided