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Houston, Texas

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Medical Genetics Test Details

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Cancer Exome Sequencing
Test Information: The Cancer Exome Sequencing test should be ordered by a physician. In general, the test is used when a patient's oncology management would benefit from identifying genetic changes in the tumor that predict sensitivity or resistance to a variety of therapeutic regimens. In some cases, the test could be ordered to understand the genetic complexity of a tumor in order to better predict a patient's possible clinical course.
Test Details
Test Code: 9610
Test Includes: Cancer exome sequencing of tumor and normal tissues with reporting of tumor mutations and germline (inherited) variants in genes associated with hereditary cancer syndromes.

Special Notes: A source of tumor AND normal DNA should be provided for the performance of this test. If submitting frozen tissue, peripheral blood can be used as a source for normal DNA. If submitting leukemic blood or bone marrow, a fresh skin biopsy for fibroblast culture needs to be provided for skin fibroblast culture. Contact the laboratory for skin biopsy collection materials.

The Cancer Exome Sequencing test is a complex test developed to identify changes in a patient's tumor DNA that can be used to predict tumor behavior or determine the likelihood of response/resistance to targeted agents or other forms of cancer therapy. In contrast to current sequencing tests that analyze a single gene or group of genes, the Cancer Exome Sequencing test will analyze the coding regions of thousands of genes simultaneously using next-generation sequencing techniques.

The Exome: The term exome refers to the portion of the human genome that contains the DNA sequence that directs protein synthesis. These functionally important regions of DNA are referred to as exons. The 22,000 known genes are comprised of approximately 180,000 exons and represent about 3% of the genome. Most errors in DNA sequence that lead to altered protein function in tumors are located in the exons, therefore, exome sequencing is an efficient method for tumor DNA sequence analysis to uncover genetic causes for tumor behavior.
Technical Information
Methodology: Exome Capture and Next Generation Sequencing. The principle of the test is to sequence nucleotide by nucleotide, the human exome of normal tissue (generally blood) and a sample of tumor tissue to a depth of coverage necessary to determine sequence variations that are unique to the tumor (somatic mutations) with high sensitivity. Point mutations, insertions and deletions of the exome are potentially discoverable and could be considered important for cancer management depending on the defect and available evidence. These sequence variations are then categorized based on their role in defining a specific tumor property or tumor sensitivity to established and novel therapeutic approaches. Somatic mutations with established and potential clinical utility, as well as cancer susceptibility germline variants, are confirmed by a second sequencing method.
Sample & Shipping Information
Test Requisition: Cancer Exome Sequencing
Specimen Type: 1. Tumor Tissue and Normal Blood Sample
Requirements: Fresh/Frozen Tissue (as source of tumor DNA): 200 mg (0.5-1.0 cm3) Fresh tissue snap frozen at -20C. Store at -20C.

Peripheral Blood (as source of normal DNA): Draw blood in an EDTA (purple-top) tube(s). Send at least 5cc (children) or 10cc (adults).

NOTE: Purified DNA from frozen tissue is acceptable. Please contact the laboratory if submitting this sample type.

Shipping Conditions: Fresh/Frozen Tissue: Ship frozen on dry iced in an insulated container by overnight courier. Do not allow to thaw.

Peripheral Blood: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.


Specimen Type: 2. Bone Marrow and Normal Tissue Sample
Requirements: Bone Marrow (as source of tumor DNA): Draw bone marrow in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 2 cc (Infant< 2 years).

Skin biopsy (as source of normal DNA): Collect a 3mm skin punch biopsy in tissue culture media

NOTE: Cultured Skin Fibroblast is acceptable. Please contact the laboratory if submitting this sample type.

Shipping Conditions: Bone Marrow: Ship at room temperature in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.

Skin biopsy: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.


Specimen Type: 3. Leukemic Blood and Normal Tissue Sample
Requirements: Leukemic Blood (as source of tumor DNA): Draw leukemic blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 2 cc (Infant<2yrs). (White count > 15,000 with at least 20% blasts).

Skin biopsy (as source of normal DNA): Collect a 3mm skin punch biopsy in tissue culture media

NOTE: Cultured Skin Fibroblast is acceptable. Please contact the laboratory if submitting this sample type.

Shipping Conditions: Leukemic Blood: Ship at 2-8C (Ambient) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.

Skin biopsy: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.


Turn Around Time: 15 weeks
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81400x2, 81401x2, 81402x2, 81403x2, 81404x2, 81405x2, 81406x2, 81407x2


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