Invitae Cerebral Palsy Spectrum Disorders Panel
Use
The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP), which is characterized by abnormal movements, fluctuating patterns of muscle tone, and posture. This panel also includes genes associated with adult-onset neurologic conditions such as hereditary spastic paraplegias (HSPs), spinocerebellar ataxias (SCAs), and amyotrophic lateral sclerosis (ALS), as well as the ATM gene for Ataxia-telangiectasia, which confers an increased risk for malignancy, particularly leukemia and lymphoma.
Special Instructions
This test can be customized by selecting genes to remove from the panel. Preferred specimen is 3mL whole blood in a purple-top EDTA tube. Alternate specimens include saliva, buccal swab, and genomic DNA (gDNA). Collection kits can be requested if required.
Limitations
This panel uses next-generation sequencing (NGS) to cover clinically important regions of each gene, including coding exons and adjacent intronic sequences. The assay may not detect certain types of variants such as structural rearrangements or variants in non-coding regions not covered by the assay. In some cases, the analyzed DNA may not represent the patient's true genetic makeup due to circulating hematolymphoid neoplasms, bone marrow transplant, or recent transfusions.
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