Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel
Use
The Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel is designed to diagnose heritable conditions affecting the white matter of the central nervous system, with or without peripheral nervous system involvement. This includes conditions that do not strictly fall under leukodystrophy, such as some inborn metabolism errors and congenital muscular dystrophies affecting white matter. The panel includes genes linked with both childhood and adult onset conditions and mitochondrial dysfunction causing white matter abnormalities. While nuclear-encoded genes are included, mitochondrial DNA is not analyzed.
Special Instructions
Genes can be deselected from analysis if desired. Notably, the panel does not assess mitochondrial DNA or conditions from repeat expansions. All sample analyses are CAP-accredited and CLIA-certified, employing full-gene sequencing and deletion/duplication analysis.
Limitations
This assay covers clinically important regions, including coding exons and some intronic sequences, but does not analyze mitochondrial DNA. Limitations may apply to certain variants and structural rearrangements might not be detected. Single-exon copy number events may be missed. Variants in promoter regions and other non-coding exons are generally not covered. Results reflect genomic DNA analysis and might not show the constitutional genome in certain rare cases, like recent blood transfusions.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)