The Pediatric Neurology Region of Interest Analysis is designed to facilitate genetic diagnosis of patients with a variety of neurological phenotypes.
Providers ordering the Pediatric Neurology Region of Interest (ROI) test can select from the following gene lists:
- Neuromuscular Disorders- 556 genes
- Movement Disorders- 522 genes
- Epilepsy/Seizures- 455 genes
- Brain Malformations- 414 genes
- Developmental Delay/Intellectual Disability- 340 genes
- Hereditary Peripheral Neuropathy- 271 genes
- Leukodystrophy/Encephalopathy- 236 genes
- Autism- 196 genes
Providers typically select 1-3 gene lists. If more than 3 gene lists are relevant to the patient, we recommend ordering the Claritas Clinical Exome (Trio: N0560. Proband only: N0889). See the gene lists separated by phenotype here.
The Pediatric Neurology Region of Interest Report includes orthogonally-confirmed sequence variants identified by Next Generation Sequencing and the results of the companion deletion/duplication analysis, if ordered.
This study can be ordered for the proband alone by submitting a sample from the affected individual, or as a trio with parental samples included in the analysis. In the case of a non-diagnostic finding, ordering providers have the option to go beyond the Region of Interest test by ordering an expansion to the Claritas Clinical Exome (Test Code N0527). A new sample will not need to be submitted. Interpretation will be provided in a new report that will be available in 12-14 weeks.
- Assesses selected ROIs related to Pediatric Neurology. These gene lists are updated based on input from Claritas scientists and partners.
- Orthogonally-confirmed variants demonstrate high specificity (PPV~99.998%)
- Orthogonal approach using Illumina NextSeq™ with simultaneous confirmation of 95% of variants on the LIFE Ion Proton™
- Remaining phenotypically-relevant variants are Sanger sequenced so that all reported variants are dual-confirmed. Mean coverage of >100x for both the Illumina NextSeq™ and LIFE Ion Proton™
- Protein coding sequences and 10 bp of adjacent intronic sequences are analyzed
- This assay detects SNVs, insertions, and deletions less than 10 bp
- Adding the companion deletion/duplication analysis (Test Code C0598) increases detection rate for copy number variants and larger indels. If not otherwise indicated, genes in this region of interest are partially or fully covered by this analysis. Genes with no deletion/duplication coverage are indicated by an asterisk (see list here).
Increase the power of the assay:
- Add companion deletion/duplication testing (Test Code C0598)
- If no diagnostic findings are reported in the ROI, providers can order an expanded interpretation of the whole clinical exome (Test Code N0527)
- A list of genes on the Pediatric Neurology Region of Interest divided by phenotype can be reviewed here.
Additional Service Highlights
- Providers may request a review of variant classification at any time.
- Providers may access the Interpretative Genomics Service at Boston Children’s Hospital, which provides consultation with experts in genes and/or phenotypes. Please contact MedicalDirector@claritasgenomics.com for more information.
- Claritas Genomics will release raw data files or provide access to exome data via NextCODE to authorized health care providers. Review Data Return Program details here.