Test Background

The Pediatric Neurology Region of Interest is designed to give Providers what they want: the power of an exome with the flexibility of a panel. Built on the Claritas Clinical Exome platform, the Pediatric Neurology Region of Interest allows Providers to select gene lists based on the patient’s phenotype. If no pathogenic or likely pathogenic variant is identified, Providers can order the Claritas Clinical Exome to allow Claritas experts to look at the rest of the exome. If still no causative variants are identified, Providers can request raw data through the WuXi-NextCODE platform. Providers can order up to 6 of the follow gene lists for the same price:

• Neuromuscular Disorders- 549 genes
• Movement Disorders- 503 genes
• Epilepsy/Seizures- 442 genes
• Brain Malformations- 403 genes
• Hereditary peripheral neuropathy- 267 genes
• Leukodystrophy/Encephalopathy- 222 genes

If all 6 gene lists are selected, 1066 genes are evaluated. Results are reported back in two phases. The Rapid Report includes orthogonally-confirmed, clinically-relevant variants that are phenotype-related. This report is available within 3 weeks. The Complete Report adds variants that are Sanger-confirmed and includes select gap filling as well as the analysis of variants in regions of low coverage. This report is available in an additional 4 weeks after the Rapid Report. If the Provider orders the Claritas Clinical Exome, the report is available in under 12 weeks.

Test Characteristics:

• Orthogonal approach using Illumina NextSeq with immediate confirmation of most variants on the LIFE Ion Proton
• Any variants not confirmed by the orthogonal approach are Sanger sequenced so that all reported variants are confirmed
• 100X mean coverage, 97% at ~20X
• Orthogonally-confirmed variants demonstrate high specificity (PPV~100%)
• A companion deletion/duplication analysis adds an additional level of evaluation that increases the detection ability for clinically relevant findings

Special notes:

1. This entry is for the Phenotypically-Driven Trio. See Test Code N0883 for the Proband Only Order.
2. Use Claritas’ Informed Consent document as a support resource. Patient signature must be obtained on the requisition form to note that consent has been obtained.
3. Providers who request reflex into the Claritas Clinical Exome should discuss the ACMG56 with the patient at the time of order. It is Claritas’ policy to report on the ACMG56 in the patient unless the patient opts out. Only those findings that are identified in the patient will be evaluated in the parental samples. The proband and the parent(s) may choose to opt-out of having the ACMG56 evaluated. See the Informed Consent signature page on the requisition form for more details. Note that if the proband opts out, the parent samples will not be evaluated for the ACMG56.
4. Interactive variant browsing is available through the WuXi-NextCODE platform. Contact us for more details.

The list of genes on the Pediatric Neurology Region of Interest can be reviewed here.
A list of genes on the Pediatric Neurology Region of Interest divided by phenotype can be reviewed here.