Invitae Brain Malformations Panel
Use
The Invitae Brain Malformations Panel analyzes genes associated with brain malformations, which are disorders affecting brain shape and function due to nervous system development issues. This test aids in confirming clinical diagnoses, predicting disease progression, facilitating early symptom detection, and informing family planning and genetic counseling. The panel encompasses genetic heterogeneity associated with brain malformations, making broad panel testing efficient in evaluating relevant genes for a single clinical indication. It may also aid in enrolling in clinical trials, though some genes assessed may relate to unrelated disorders not included in disorders tested.
Special Instructions
Contact client services for additional queries or specific limitations in the analysis of these genes, which will be detailed on the report. Customization is allowed through gene removal before ordering.
Limitations
The analysis does not cover variants outside key coding regions, particularly large structural rearrangements (e.g., inversions), complex architecture sequences, and the assay cannot fully resolve issues of mosaicism, phasing, or mapping ambiguity. Deletions/duplications larger than 15bp but smaller than a full exon may have reduced sensitivity. Single exon copy number events may not be evaluated due to certain sequence properties or data quality issues, and some genes might not be analyzed for promoter or non-coding variants unless specified.
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