ExomeNext-Select
Use
ExomeNext provides comprehensive genomic analysis for patients with rare diseases and neurodevelopmental disorders. It includes whole exome sequencing of up to 500 nuclear genes using next-generation sequencing methods. Genetic variants are filtered through an in-house bioinformatics pipeline and analyzed by a medical team. Variants are reviewed to determine pathogenicity and clinical correlation with the patient's symptoms. This test helps identify underlying genetic causes to clarify diagnoses, tailor medical care, guide therapy selection, and inform family decisions.
Special Instructions
The test utilizes next-generation sequencing methods for analyzing up to 500 genes. The Patient for Life program offers continuous updates with new findings. Family variant testing is available at no additional cost for related individuals diagnosed with pathogenic variants.
Limitations
The test is limited to ~500 nuclear genes, and there may be pathogenic variants that the technology cannot detect. Some genes related to specific conditions may not be included or known at this time. Results may be influenced by technical artifacts or incomplete knowledge of gene functions.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
PAXgene tube blood sample. RNA analysis is included if this sample type is provided.