Whole exome sequencing and analysis for the detection of genetic variation underlying suspected monogenic disease. Trio sequencing (patient and comparator parents) is recommended but singleton and other family structures also available. Minimum mean depth of coverage across the target region of 130x achieves sensitive detection of small variation (SNVs and indels) across the coding regions of the genome.
ACMG SF 3.2 secondary findings available for sequenced individuals (proband as well as comparators).
Indications for Testing
- Suspected Mendelian disease
- Intellectual disability
- Developmental delay
- Multiple congenital anomalies
Testing Methodology
Testing is performed using next-generation sequencing (NGS) in our CAP/CLIA labs for comprehensive coverage of the coding regions of the genome.
Types of variation detected include single nucleotide variants (SNVs) and small insertions and deletions (indels).
Results and Interpretation
Clinically significant and potentially clinically significant variation in genes related to the patient’s clinical features will be reported. Variants are interpreted by a board-certified clinical genomicist in the context of the patient’s disease.
Return of ACMG SF 3.2 secondary findings is available for sequenced individuals (proband as well as comparators). A report will be returned to each individual providing a specimen for sequencing.
The turnaround time for testing and interpretation is 8 weeks from specimen receipt.
Specimen Requirements
Preferred specimen is is 2-5 mL of peripheral blood in a lavender-top EDTA tube.
Alternative specimen: 4 buccal swabs (please contact laboratory prior to sending buccal swabs).
DNA extracted in a CLIA-certified laboratory (or equivalent) is accepted only with laboratory approval.
Specimen collection kits are available upon request.
Clinical Utility
Whole exome sequencing is a powerful tool for establishing a molecular diagnosis in individuals with suspected genetic disease, providing answers for patients and families and guiding clinical decision making (PMID: 32203227). The American College of Medical Genetics and Genomics recommends exome sequencing as a first-tier test for pediatric patients with congenital anomalies/developmental delay, and/or intellectual disability (PMID: 34211152).