Leukodystrophy and Leukoencephalopathy Panel
Use
This test is designed for individuals who have relevant clinical features or a suspected diagnosis of leukodystrophy or leukoencephalopathy. It is particularly useful for those with characteristic white matter abnormalities observable during neuroimaging. Early genetic testing can facilitate accurate diagnosis and aid in the management of the disease.
Special Instructions
STAT testing is available, reducing the typical turnaround time by up to 50%. Ensure to select the correct platform based on your specimen type and desired analysis. It is important to submit detailed clinical information to enhance variant interpretation.
Limitations
This test utilizes NGS and CNV analysis, which may not detect all variants, particularly in repetitive or homologous regions. Variants in regions of low coverage or poor quality could be missed. Interpretation is dependent on the quality and detail of the clinical information provided, and certain variant types such as large structural variants may not be well addressed by this method.
New York Approved
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