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Special Instructions
This assay is not currently available in New York state.
This specimen should be collected from the father of the patient for whom Whole Exome Sequencing - DUO (Proband) [620023] or Whole Exome Sequencing - TRIO (Proband) [620022] is being ordered. The test to be ordered for the father is Whole Exome Sequencing Comparator - Father (620197).
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This assay is not currently available in New York state. This specimen should be collected from the father of the patient for whom Whole Exome Sequencing - DUO (Proband) [620023] or Whole Exome Sequencing - TRIO (Proband) [620022] is being ordered. The test to be ordered for the father is Whole Exome Sequencing Comparator - Father (620197). |
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This assay is not currently available in New York state. This specimen should be collected from the father of the patient for whom Whole Exome Sequencing - DUO (Proband) [620023] or Whole Exome Sequencing - TRIO (Proband) [620022] is being ordered. The test to be ordered for the father is Whole Exome Sequencing Comparator - Father (620197). |
Expected Turnaround Time
2 - 4 weeks
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
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2 - 4 weeks |
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2 - 4 weeks |
Related Information
Related Documents
For more information, please view the literature below. These forms are required to submit for whole exome sequencing.
Clinical Questionnaire for Whole Exome/Genome Sequencing
Informed Consent: Whole Exome & Whole Genome Sequencing
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For more information, please view the literature below. These forms are required to submit for whole exome sequencing. |
Specimen Requirements
Specimen
Whole blood, oral swab, extracted DNA
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Whole blood |
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Whole blood, oral swab, extracted DNA |
Volume
4 mL, 1 swab, or 200 ng of DNA
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4 mL |
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4 mL, 1 swab, or 200 ng of DNA |
Container
Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only, extracted DNA
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Lavender-top (EDTA) tube |
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Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only, extracted DNA |
Storage Instructions
Blood: ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze. Swab: 60 day post-collection room temperature; DNA: ship at room temperature after extraction.
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Blood: ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze. Swab: 60 day post-collection room temperature; DNA: ship at room temperature after extraction. |
Stability Requirements
• Room temperature: Blood: 5 days; Swab: 60 days; DNA: 30 days
• Refrigerated: Blood: 5 days; Swab: 60 days; DNA: 30 days
• Frozen: Blood: Do not freeze; Swab: 60 days; DNA: Indefinitely
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• Room temperature: Blood: 5 days; Swab: 60 days; DNA: 30 days • Refrigerated: Blood: 5 days; Swab: 60 days; DNA: 30 days • Frozen: Blood: Do not freeze; Swab: 60 days; DNA: Indefinitely |
Causes for Rejection
Frozen blood EDTA tube; insufficient swab cell collection or incorrect oral swab device use; extracted DNA A260:A280 ratio outside of 1.8-2.0 range
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Frozen blood EDTA tube |
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Frozen blood EDTA tube; insufficient swab cell collection or incorrect oral swab device use; extracted DNA A260:A280 ratio outside of 1.8-2.0 range |
Test Details
Use
Whole exome sequencing (WES) is a genetic test used to identify a hertiable cause of disorder. This test should be used in cases of WES Duo or Trio sequencing where the father can be used as a comparator to inform the diagnosis of the proband.
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Whole exome sequencing (WES) is a genetic test used to identify a hertiable cause of disorder. This test should be used in cases of WES Duo or Trio sequencing where the father can be used as a comparator to inform the diagnosis of the proband. |
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Whole exome sequencing (WES) is a genetic test used to identify a hertiable cause of disorder. This test should be used in cases of WES Duo or Trio sequencing where the father can be used as a comparator to inform the diagnosis of the proband. |
Limitations
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
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This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. |
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This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. |
Methodology
Whole Exome Sequencing
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Whole Exome Sequencing |
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Whole Exome Sequencing |
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