skip to content »

Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
not shown on screen

Medical Genetics Test Details

View Custom Req   |    Tests in Custom Req: 0
Search Tests: (Search by disease, test name, gene name, test code, or keyword. Return to test index.)

    Browse:  # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



Adult Screening Exome Sequencing
Test Information: Indications for Testing
The Adult Screening Exome Sequencing test is ordered by a physician and must be accompanied with a consent form and detailed clinical information. The test is used when a patient's medical history and physical exam findings are normal, but the patient desires information about potential future risk of developing a genetic disorder.

- Healthy patient with interest in knowing about their future risk of developing a genetic disorder.
- Must be 18 years of age or older with no significant active or past personal or family history of medical problems.
Test Details
Test Code: 1605
Special Notes: The Adult Screening Exome Sequencing test is a highly complex test that is newly developed for the identification of changes in a patient's DNA that are causative or related to future medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, the Adult Screening Exome Sequencing test will analyze the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques.

The exome refers to the portion of the human genome that contains functionally important sequences of DNA that direct the body to make proteins essential for the body to function properly. These regions of DNA are referred to as exons. There are approximately 180,000 exons in the human genome which represents about 3% of the genome. These 180,000 exons are arranged in about 22,000 genes. It is known that most of the errors that occur in DNA sequences that then lead to genetic disorders are located in the exons. Therefore, sequencing of the exome is thought to be an efficient method of analyzing a patient's DNA to discover the genetic cause of diseases or disabilities.

The principle of the test is to sequence nucleotide by nucleotide, the human exome of an individual to a depth of coverage necessary to build a consensus sequence with high accuracy. This consensus sequence is then compared to standards and references of what is normal in the population and the result is interpreted by board-certified laboratory directors and clinicians. By sequencing the exome of a patient and comparing it to normal reference sequence, variations in an individual's DNA sequence can be identified and related back to the individual's future medical concerns.
Technical Information
Sample & Shipping Information
Test Requisition: Adult Screening Exome Sequencing
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 48 hrs.

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.

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.

Turn Around Time: 15 weeks
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81400 x 1, 81401 x 1, 81402 x 1, 81403 x 1, 81404 x 1, 81405 x 1, 81406 x 1, 81407 x 1


Return to test index