Exome Sequencing, Familial Control
Also known as: EXOME FRPT
Use
This test is used to submit parental or familial control samples for Exome Sequencing (test code 3016583). It aids in the interpretation of the proband's exome sequencing data and can include reporting of secondary findings, such as pathogenic variants in genes recommended by the American College of Medical Genetics (ACMG), if opted-in during submission. The test covers all coding exons and exon-intron junctions of the targeted genes. The results contribute to understanding inherited genetic disorders within a family context.
Special Instructions
Not provided.
Limitations
The test might not identify all pathogenic variants as it focuses on coding exons and exon-intron junctions, which constitute approximately 1-2% of the human genome. The analysis may not adequately cover certain genes, large deletions, duplications, mosaics, and regions with high GC content or corresponding pseudogenes. Variants of unknown significance and single pathogenic variants in autosomal recessive genes are not reported.
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
2 mL
Minimum Volume
1.0 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Collection Instructions
Peripheral blood required. Contact ARUP's genetic counselor at 800-242-2787 ext. 2141 prior to test submission.
Storage Instructions
Refrigerated
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
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