Invitae Treatable Neurometabolic Disorders Panel
Use
The Invitae Treatable Neurometabolic Disorders Panel analyzes genes associated with inherited neurometabolic disorders that have treatments of varying efficacy. These genes were selected based on available evidence to provide a broad test for treatable inherited neurometabolic disorders. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives.
Special Instructions
This test is New York approved. The preferred specimen type is whole blood, but saliva, buccal swab, and genomic DNA (gDNA) are also accepted.
Limitations
The assay may not detect certain types of variants, such as structural rearrangements or variants embedded in sequence with complex architecture. It may not resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered. In rare cases, single-exon copy number events may not be analyzed.
New York Approved
Methodology
NGS (Targeted)
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)