Exome Sequencing, Familial Control

Casandra

Casandra Test Code AR66297Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3016589

Exome Sequencing, Familial Control

Also known as: EXOME FRPT

Clinical Use

Order Test

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

To include a report of secondary findings for parental samples, indicate opt-in status on the Exome Sequencing Intake Form, which may involve additional charges. It is recommended to submit comparator samples within 7 days of the proband's sample, and the exome sequencing intake form must include the name and date of birth of parental control samples.

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.

Test Details

Methodology

NGS

Biomarkers

Targeted capture of all coding exons and exon-intron junctions followed by massively parallel sequencing. Sanger sequencing used to confirm reported variants.

LDLR

Gene

SNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)