Genomics Services
 
 
Whole Exome Sequencing
Exome sequencing identifies the cause of a Mendelian disorder or uncommon monogenic disorders, known and unknown variants and mutants; known SNPs, indels (insertions and deletions), UTRs (untraslated regions) and other neurodevelopmental diseases. WES plays a pivotal role in the prognosis and diagnosis of genetic diseases, prenatal disorders, neonatal syndromes and other physiological conditions for which no genetic cause was found with the targeted testing or chromosomal arrays.

At Xcelris, we have performed WES (the complete coding regions of human genome) of more than 100 clinical samples, who were referred for a variety of conditions by medical geneticists. Among them 50% of patients carried causal variations as well as predisposing variants for rare genetic disorders. About 30-40% were for carrier testing of genetic variants, due to strong family history.

This test will analyze the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques. The principle of the test is to sequence human exome of an individual nucleotide by nucleotide to a depth of coverage necessary to build a consensus sequence with high accuracy. We use our proprietary bioinformatics pipeline for alignment, variant calling and annotation and provide a comprehensive report to clinicians.

Sample Type

Blood Sample: 5 ml blood in EDTA Vacutainer at 2-8°C

Fresh Tissue: Fresh Tissue in tms RNA stabilizer (XGtms-100) provided by Xcelris Labs in sterile leak proof container at -20°C. (in Dry Ice Only)
 
 
 
Whole Genome Sequencing   |   Whole Exome Sequencing   |   Mitochondrial DNA Sequencing   |   HLA Typing
 
 
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