Exome Sequencing
Also known as: EXOME PRO
Use
Exome Sequencing is used to determine the etiology of a patient's symptoms if a Mendelian genetic condition is suspected. This test is helpful in identifying genetic variants that could be causative for suspected genetic syndromes, developmental delays, intellectual disabilities, or autism spectrum disorders. The exome includes approximately 85% of genetic disease-causing variants, which allows for the detection of known nuclear gene-associated variations. Parental control specimens can enhance the diagnostic yield, and it's particularly recommended when there's a need to understand inherited risks or confirm clinical suspicions through genetic evidence.
Special Instructions
Not provided.
Limitations
Exome sequencing analyzes the coding regions and intron-exon boundaries of targeted genes, but might not detect all genetic disorders as it excludes non-coding regions, regulatory regions, deep intronic variants, and large deletions or duplications. Technical limitations impact regions with pseudogenes, repetitive sequences, or homologous regions. The test may not identify low-level somatic mutations, which are better suited for alternate methods. Interpretation can be affected by incorrect family member reporting or prior stem cell transplant in the patient.
Methodology
NGS
Biomarkers
LOINC Codes
- 86205-2 - Whole exome seq analysis Bld/T
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2mL
Minimum Volume
1.0mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B) tube
Collection Instructions
Peripheral blood collection is required. Refer to the guidelines of the related test code 3016589 for parental specimen requirements.
Storage Instructions
Transport refrigerated.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient: 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant