Lab Test

Test Definition Number : 161
Test Definition Name : Gene sequencing panel (Exome)
Lab Name : Baylor Genetics, Baylor College of Medicine
Lab Test Number of THIS Version : 1092
Lab Test Name : Proband Whole Exome Sequencing
Status : Active
Expired : No
Updated : 2017-06-05 15:15 EDT

General Attributes

Chromosome Band :
HUGO Gene Name :
ICD-Oncology Code
(includes WHO classification diagnoses)
:

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Sequencing - Next Generation (Massively Parallel) (NGS)
Specimen Source
(for clinical patient care these sources must be validated)
:
ICD-10 Code :
Use :
Genetics Category :
SNOMED CT :
LOINC :
Comments : Test code: 1500 Test description: 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.
Specimen Transport Requirements :
Samples Available for Proficiency Test Sample Exchange : No

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