A comprehensive analysis and diagnostic interpretation of a patient's entire protein-coding genome (37 million base pairs in ~20,000 genes) to potentially locate the single DNA change responsible for the patient's disorder. This service utilizes next generation sequencing technology and includes pre- and post-test counseling by certified genetic counselors as well as consultation from specialist physicians. Only clinically significant variants which are associated with the primary clinical concern(s) will be reported. Variants of uncertain clinical significance which are unrelated to the primary clinical concern(s) as well as any incidental findings which are not medically actionable will not be reported.
Performing Laboratory / Facility
UCLA Medical Center Clinical Laboratory (CHS)
Performing Section
Exome Sequencing
Availability
Monday through Friday, 0700-1700
Turnaround Time
8 weeks from receipt of specimen in lab
Methodology
Exome sequencing is performed using the Agilent SureSelect Critical Research Exome XT kit on an Illumina HiSeq® 2500 platform.
Use
Identification of causative germline mutations in an affected patient (diagnosis)
Limitations
There is a chance that the true disease-causing variants will not be observed due to insufficient coverage.
Specimen Type
Whole blood
Container
Lavender/EDTA
Volume
4ml
Minimum Volume
1ml
Special Instructions
High molecular weight genomic DNA extracted from whole blood. Minimum 2 µg at 100 ng/uL, preferably accompanied with 1% to 2% agarose gel run image and 260/280 ratio. Genomic DNA is the preferred specimen for international requests. Other tissue samples are not acceptable. Signed consent form is required.
Shipping and Handling Instructions
Collect and transport specimen at room temperature. . Store in refrigerator if not delivered to the performing lab on the same day.
Causes for Rejection
Wrong specimen type Frozen or clotted specimens.
Test Information
Orderable Test Codes
LAB 9043 LAB 9045
CPT Codes
81415 (Proband) 81416 (Comparator)
Synonyms
Exome Sequencing
Next Generation Sequencing
Whole Exome Sequencing
Test Includes
A comprehensive analysis and diagnostic interpretation of a patient's entire protein-coding genome (37 million base pairs in ~20,000 genes) to potentially locate the single DNA change responsible for the patient's disorder. This service utilizes next generation sequencing technology and includes pre- and post-test counseling by certified genetic counselors as well as consultation from specialist physicians. Only clinically significant variants which are associated with the primary clinical concern(s) will be reported. Variants of uncertain clinical significance which are unrelated to the primary clinical concern(s) as well as any incidental findings which are not medically actionable will not be reported.
Performing Laboratory / Facility
UCLA Medical Center Clinical Laboratory (CHS)
Performing Section
Exome Sequencing
Availability
Monday through Friday, 0700-1700
Turnaround Time
8 weeks from receipt of specimen in lab
Methodology
Exome sequencing is performed using the Agilent SureSelect Critical Research Exome XT kit on an Illumina HiSeq® 2500 platform.
Use
Identification of causative germline mutations in an affected patient (diagnosis)
Limitations
There is a chance that the true disease-causing variants will not be observed due to insufficient coverage.
Specimen Collection and Handling
Specimen Type
Whole blood
Container
Lavender/EDTA
Volume
4ml
Minimum Volume
1ml
Special Instructions
High molecular weight genomic DNA extracted from whole blood. Minimum 2 µg at 100 ng/uL, preferably accompanied with 1% to 2% agarose gel run image and 260/280 ratio. Genomic DNA is the preferred specimen for international requests. Other tissue samples are not acceptable. Signed consent form is required.
Shipping and Handling Instructions
Collect and transport specimen at room temperature. . Store in refrigerator if not delivered to the performing lab on the same day.
