Clinical Exome Sequencing
For over 31 years, Genetics Center has been providing the most advanced, and clinically relevant genetic testing at our CLIA certified, COG approved, and CAP accredited Cytogenetics and Molecular genetics laboratories. We are proud to announce our next-generation sequencing technology and ability to provide mitochondrial whole genome sequencing, relevant targeted mutation panels, and Clinical Exome sequencing.
Clinical Exome sequencing is a highly complex molecular test that analyzes the exons (or coding regions) of thousands of genes from a small sample of blood, by next generation sequencing techniques. The purpose of this test is to identify the underlying molecular cause of a genetic disorder in an affected individual. Genetics Center is unique as we have a large team of medical geneticists, clinical molecular geneticists, scientists and genetic counselors in the review of each case in order to provide the most clinically relevant results.
Reasons for Referral
- Clinical Exome Sequencing should be considered in the clinical diagnostic assessment of a phenotypically affected individual when:
- A genetic disorder is suspected clinically, but limited genetic testing is available clinically.
- The patient’s features are unclear or atypical and there are multiple genetic condition as part of the differential diagnosis.
- The patient’s clinical testing has become a ‘diagnostic odyssey’, and a family may have pursued all testing available without reaching a diagnosis.
- A novel or candidate gene is suspected but has yet to be discovered.
- A patient in which a multi-gene panel work-up is being considered; Clinical Exome sequencing is often more cost effective than a 8-10 gene panel and provides further information.
Please note: Clinically significant mutations associated with the clinical concern will be reported to your physician. Variants or genes of uncertain clinical significance may be reported to your physician. Incidental /Secondary findings will be reported in accordance with the current ACMG recommendations.
Specimen Requirements and Shipping/Handling
Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top) is required for the proband as well as both biological parents.
Please include the patient’s recent medical records, summary of genetic testing already performed, three-generation family history and copies of prior genetic evaluations with the patient’s sample. Informed consent (link below) is also required to be submitted with the samples.
Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.
Send Specimen(s) to:
211. S Main Street
Orange, CA 92868