Medical Genetics Test Details
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Noonan Spectrum Disorders/RASopathy Panel (26-gene panel by NGS) tests available.
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Diagnostic Testing | Familial Mutation/Variant Analysis | Mutation Testing General Population | Prenatal Diagnosis | Presymptomatic Testing | |
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Next Generation Sequencing |
![]() Test Code: 21400 |
![]() Test Code: 21402 |
Noonan Spectrum Disorders/RASopathy Panel | ||
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Test Information: | The Noonan Spectrum Disorders/RASopathy Panel analyzes 26 genes by the clinically validated approach of Massively Parallel Sequencing (MPS) using Next-Generation Sequence (NGS) technology to analyze selected genes associated with Noonan spectrum disorders. The genes analyzed by this panel can be found in the Gene Name section.The panel can be used for confirmation of clinical diagnosis, carrier screening, and differential diagnosis. | |
Test Details | ||
Test Code: | 21400 | |
Technical Information | ||
Methodology: | Targeted Capture followed by Massively Parallel Sequencing | |
Gene Name: | A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RASA2, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1, SYNGAP1, TRAF7, YWHAZ | |
Test Type: | Next Generation Sequencing |
Sample & Shipping Information | ||
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Test Requisition: | Molecular Diagnostics | |
Specimen Type: | Blood | |
Requirements: | Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children). | |
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: | Buccal Swab | |
Requirements: | Collected with ORAcollect•Dx(OCD-100) self-collection kit (provided by Baylor Genetics with instructions). It is highly recommended that 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: | 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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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: | 13 days | |
Billing Information | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81442x1 |