Invitae Metachromatic Leukodystrophy Panel
Use
The Invitae Metachromatic Leukodystrophy Panel analyzes genes associated with metachromatic leukodystrophy, a neurodegenerative lipid storage disorder causing progressive demyelination. This test aids in identifying pathogenic variants in the ARSA, PSAP, and SUMF1 genes, which are implicated in different forms of the disorder, and is indicated for individuals suspected of MLD due to clinical, neurologic, radiologic, or biochemical findings.
Special Instructions
Arylsulfatase A deficiency is the most common cause of MLD, linked to pathogenic variants in the ARSA gene. PSAP gene variants affect saposin B, while SUMF1 variants result in multiple sulfatase deficiency, combining features of MLD with other disorders. Individuals with pseudodeficiency alleles in ARSA do not exhibit clinical symptoms of MLD.
Limitations
The test may not detect certain structural rearrangements, variants in complex regions, or provide full resolution of mosaicism, phasing, or mapping ambiguity. Sequence changes in promoter, non-coding regions, and certain non-coding exons may not be analyzed. Single-exon copy number events might not be detected due to sequence properties or data quality.
New York Approved
Methodology
NGS
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)