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Whole Exome
Test Code13517
CPT Codes
81415<br><strong>This test is not available for New York patient testing.</strong>
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube or
2 mL saliva collected in the Oragene-Dx collection kit or
Buccal swab collected in Oragene-Dx collection kit
2 mL saliva collected in the Oragene-Dx collection kit or
Buccal swab collected in Oragene-Dx collection kit
Patient Preparation
Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal swab collection
Minimum Volume
1 mL whole blood
2 mL saliva
2 mL saliva
Instructions
Saliva: Fill saliva up to the fill to line.
Note: Extracted DNA is accepted. Please contact the laboratory Genetic Counselor at 1-866-GENEINFO (866-436-3463) prior to submission of sample.
Note: Extracted DNA is accepted. Please contact the laboratory Genetic Counselor at 1-866-GENEINFO (866-436-3463) prior to submission of sample.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Saliva
Room temperature: 15 days
Refrigerated: 15 days
Frozen: Unacceptable
Buccal
Room temperature: 15 days
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Saliva
Room temperature: 15 days
Refrigerated: 15 days
Frozen: Unacceptable
Buccal
Room temperature: 15 days
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Hemolysis
Methodology
Next Generation Sequencing with confirmation of deletions/duplications through ddPCR
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Once a week; Fri; Report Available: 6-8 weeks
Clinical Significance
Whole Exome includes high-quality whole exome sequence analysis of single patient cases, coupled with whole exome deletion/duplication analysis. Whole exome allows detection of single-nucleotide and indel variants, as well as larger deletions/duplications.
Whole Exome Sequencing (WES) is a robust and one of the most comprehensive genetic tests for identifying the disease-causing changes in a large variety of genetic disorders.
In WES, protein-coding regions of all genes (approximately 20,000) of the human genome, known as the exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only approximately 1% of the whole genome, 85% of all disease-causing mutations are located there.
Indeed, WES has not only been successful in the identification of new disease genes but is also a powerful method in clinical settings to identify the molecular basis of genetic disorders across various medical specialties.
The diagnostic yield of WES is higher than some traditional gene diagnostic methods. A definite diagnosis is typically obtained in 20% to 60% of cases, depending on the medical specialty, with severe, early-onset disorders having the highest diagnostic rates (The Deciphering Developmental Disorders Study 2014 Nature; Farwell et al. 2015 Genetics in Medicine; Stark et al. 2016 Genetics in Medicine).
WES is most suitable for individuals with:
1. A complex, unspecific genetic disorder with multiple differential diagnoses
2. A genetically heterogeneous disorder
3. A suspected genetic disorder where a specific genetic test is not available
4. Unsuccessful previous genetic testing
Whole Exome Sequencing (WES) is a robust and one of the most comprehensive genetic tests for identifying the disease-causing changes in a large variety of genetic disorders.
In WES, protein-coding regions of all genes (approximately 20,000) of the human genome, known as the exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only approximately 1% of the whole genome, 85% of all disease-causing mutations are located there.
Indeed, WES has not only been successful in the identification of new disease genes but is also a powerful method in clinical settings to identify the molecular basis of genetic disorders across various medical specialties.
The diagnostic yield of WES is higher than some traditional gene diagnostic methods. A definite diagnosis is typically obtained in 20% to 60% of cases, depending on the medical specialty, with severe, early-onset disorders having the highest diagnostic rates (The Deciphering Developmental Disorders Study 2014 Nature; Farwell et al. 2015 Genetics in Medicine; Stark et al. 2016 Genetics in Medicine).
WES is most suitable for individuals with:
1. A complex, unspecific genetic disorder with multiple differential diagnoses
2. A genetically heterogeneous disorder
3. A suspected genetic disorder where a specific genetic test is not available
4. Unsuccessful previous genetic testing
