Medical Genetics Test Details
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Rapid Proband Whole Genome Sequencing | ||
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Test Information: | Whole Genome Sequencing (WGS) is a highly complex, comprehensive genetic test that looks at the entire human genome (up to 98%), as opposed to only the exome (the coding regions of human DNA), which only accounts for about 2% of the human genome or at only specific genes. With this level of coverage, WGS has the advantage of being a single test that can detect genetic variants that may not be recognized from a test that is highly specific or only targets the exome. WGS includes coverage on all genes and currently reports on single nucleotide variants/indels (SNVs), copy number variants (CNVs), structural variants (SV), absence of heterozygosity (AOH), mitochondrial variants and trinucleotide repeats. This is recommended for patients who are critically ill with an undiagnosed genetic syndrome who need a rapid turnaround time for results. |
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Test Details | ||
Test Code: | 1829 | |
Special Notes: |
See below and requisition for sample requirements and further details. The turnaround time begins when the patient?s sample arrives at the BG Lab. Some results may require confirmatory studies, which will cause additional time of reporting. |
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Technical Information | ||
Methodology: | Next-Generation Sequencing |
Sample & Shipping Information | ||
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Test Requisition: | Whole Genome Sequencing | |
Specimen Type: | Blood | |
Requirements: | 3-5 cc (2 yrs-adult), 2-3 cc (newborn-2 yrs) in EDTA (purple-top) tube (molecular testing). Attach clinical notes and concurrent laboratory reports (such as CBC, flow cytometry results, and pathology reports). Concurrent laboratory reports may be sent later as soon as they become available. |
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Shipping Conditions: | Ship at room or refrigerated temperature in an insulated container by overnight courier. Do not heat or freeze. Specimen should arrive in laboratory within 24-48 hours of collection. |
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Specimen Type: | Buccal Swab | |
Requirements: | Collected with ORAcollectDx (OCD-100) self-collection kit (provided by Baylor Genetics with instructions). It is highly recommended the sample be collected by a healthcare professional. | |
Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs. |
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Specimen Type: | Saliva | |
Requirements: | Collect with Oragene DNA Self-Collection Kit | |
Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
Turn Around Time: | Starting at 5 days | |
Billing Information | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81425 |