| Hereditary Melanoma Panel
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| Test Information: |
The Hereditary Melanoma Panel analyzes 10 genes by the clinically validated approach of Massively Parallel Sequencing (MPS) using Next-Generation Sequence (NGS) technology to analyze selected genes associated with an increased risk for melanoma. The genes analyzed by this panel can be found in the Gene Name section.In general, the test is used when a patient's medical history and family history findings strongly suggest that there is an underlying genetic etiology of melanoma. The panel can be used for confirmation of clinical diagnosis and differential diagnosis. |
| Test Details |
| Test Code: |
22904 |
| Special Notes: |
All coding exons of these genes and at least 20 base pairs of flanking intronic sequences are analyzed. All exonic variants and intronic variants within 20 bp of the exon/intron boundary will be reported. The NGS read depth is examined for evidence of large deletion/duplication mutations at the targeted genes. If detected, evidence of copy number change will be presented in the results and interpretation. For autosomal recessive conditions in which one mutation or at least one VUS is identified, read depth is specifically assessed.
While all regions are evaluated by NGS for possible copy number changes, variations in sample quality or the presence of pseudogenes or other homologous sequences may result in a signal to noise ratio that precludes analysis of some regions. Thus, NGS will not detect all copy number changes. A normal NGS analysis does not exclude the possibility of copy number changes of a gene or portion of a gene. In addition, multiplex ligation-dependent probe amplification (MLPA) and/or array comparative genomic hybridization (aCGH), performed on a targeted oligonucleotide array CGH (PanelArr), may be used to assess or confirm copy number changes involving gene(s) in this panel.
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| Technical Information |
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| Methodology: |
Targeted Capture followed by Massively Parallel Sequencing, and Array CGH Analysis (aCGH).
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| Gene Name: |
BAP1, BRCA2, CDKN2A, CDK4, MITF, POT1, PTEN, RB1, TERT, TP53 |
| Sample & Shipping Information |
| Test Requisition: |
Hereditary Cancer |
| Specimen Type: |
Blood |
| Requirements: |
Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children).
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| 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.
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