Invitae Comprehensive Neurometabolic Disorders Panel
Use
The Invitae Comprehensive Neurometabolic Disorders Panel analyzes genes that are associated with inherited neurometabolic disorders. Neurometabolic disorders on this panel encompass newborn metabolic disorders with neurologic components as well as metabolic disorders of the central nervous system with isolated or predominant neurologic presentation. These genes were selected based on the available evidence to date to provide a broad test for 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
Not provided.
Limitations
Any variants that fall outside the analyzed regions are not analyzed. Certain types of variants, such as structural rearrangements (e.g., inversions, gene conversion events, translocations, etc.) or variants embedded in complex sequence architecture (e.g., short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully 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 by this assay unless explicitly guaranteed.
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)
Other tests from different labs that may be relevant