Medical Genetics Test Details
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| Total BluePrint Panel | ||
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| Test Information: | The Total Blueprint Panel is a test comprised of approximately 4,800 known Mendelian disease causing genes. This test focuses on the regions of the genes that contain important sequences of DNA that serve as the blueprint for essential proteins important for proper body function. These regions of DNA are referred to as exons. It is known that most of the errors that occur in DNA sequences that then lead to genetic disorders are located in the exons. In contrast to other sequencing tests that analyze anywhere from one gene to hundreds of genes, yet could still miss the culprit gene, the Total Blueprint Panel will analyze all the exonic regions of the 4,800 or so genes at one time in order to identify the rare changes in an individual's DNA that are contributing to their medical concerns. For more information on specific coverage, click here: Total BluePrint Panel gene list and coverage information | |
| Test Details | ||
| Test Code: | 1390 | |
| Special Notes: | Parental samples are requested, if available, to interpret proband Total BluePrint Panel results by targeted Sanger sequencing. See requisition for sample requirements and further details. | |
| Technical Information | ||
| Methodology: | Next Generation Sequencing | |
| Sample & Shipping Information | ||
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| Test Requisition: | Total BluePrint | |
| Specimen Type: | Blood | |
| Requirements: | Draw blood in an EDTA (purple-top) tube(s). Send at least 5cc (children) or 10cc (adults). | |
| 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: | Cultured Skin Fibroblast | |
| Requirements: | Send 2 T25 flasks at 80-100% confluence. | |
| Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
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| Specimen Type: | Purified DNA | |
| Requirements: | Send at least 20ug of purified DNA (minimal concentration of 50ng/ul; A260/A280 of ~1.7). | |
| Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
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| Turn Around Time: | 10 weeks | |
| Billing Information | ||
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| List Price: | *For Insurance or Institutional Prices, please call. | |
| CPT Codes: | 81404x4, 81405x1, 81406x7, 81407x1, 81408x2 | |