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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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High Risk Hereditary Breast Cancer Panel
Test Information: Confirmation of Clinical Diagnosis, Differential Diagnosis

The High Risk Hereditary Breast Cancer Panel uses next-generation sequencing and deletion/duplication analysis to simultaneously analyze selected genes associated with an increased risk of breast cancer. Hereditary breast cancer accounts for approximately 5 to 10% of breast cancer cases. Approximately 25 to 50% of hereditary breast cancer cases have mutations in the BRCA1/2 genes. Additional high risk breast cancer genes include CDH1, PALB2, PTEN, STK11 and TP53. 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 breast cancer.
Test Details
Test Code: 23000
Special Notes: Seven genes involved in high risk hereditary breast cancer are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation Sequence (NGS) technology. The genes analyzed by this panel are tabulated below. Sequencing of these genes is also available using the associated individual test codes.

BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, and TP53.

All coding exons of these 7 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. Targeted Array CGH analysis is available when copy number changes are still suspected. For targeted oligonucleotide array CGH analysis - BMGL Test (#2001) for a single locus MitoMetŪPlus aCGH Analysis and Test (#2003) for multiple loci MitoMetŪPlus aCGH Analysis (Targeted Analysis) may be warranted if intragenic deletion/duplication mutations are suspected.

A Hereditary Breast/Ovarian/Endometrial Cancer Panel (#22404) is also available, which is more comprehensive and includes 23 genes associated with reproductive cancers.
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing.
Gene Name: BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53
Sample & Shipping Information
Test Requisition: Cancer Molecular Germline
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.

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.

Specimen Type: Saliva
Requirements: Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81211x1, 81321x1


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