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Whole Exome Family Trio
Test Code13519
CPT Codes
81415, 81416 (x2)<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
Instructions
Saliva: Fill saliva up to the "fill to" line using one of the following Oragene-Dx collection kits: OG-500/OGD-500; OG-510/OGD-510; OG-575/OGD-575.
Buccal: Buccal swab collected in Oragene-Dx collection kit: OCD-100/OCD-100A
Note: Extracted DNA is accepted. Please contact the laboratory Genetic Counselor at 1-866-GENEINFO (866-436-3463) prior to submission of sample.
Buccal: Buccal swab collected in Oragene-Dx collection kit: OCD-100/OCD-100A
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 swab
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 swab
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
Setup Schedule
Friday Morning
Report available: 43 Days
Report available: 43 Days
Reference Range
See Laboratory Report
Clinical Significance
Whole Exome Family Trio includes high-quality whole exome sequence analysis of an index patient and parents or other family member, coupled with whole exome deletion/duplication analysis. Whole Exome Trio Plus is an essential tool for detecting de novo mutations and copy number variants, which underlie many of the early-onset diseases.
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
