WES

Clinical indications

Family with a history genetic disease

Patients with atypical disease characteristics without diagnosis

Patients with physical and mental disabilities

Couples who want to check the reason of recurrent miscarriage or stillbirth

Patients who have failed to find a genetic cause by clinical exome sequencing

Technology

Wet lab (Genomic DNA)

Illumina NovaSeq 6000; Capture based tech (nano WES / IDT / Agilent probe)

Average 100X sequencing coverage, Q30 > 90%, 20X coverage rate > 95%


Dry lab (Bioinformatics)

VeritaTrekker® Variants Detection System (SNVs, CNVs, InDels)

Enliven® Data Annotation and Interpretation System

Cruxome Interface®


Case sharing

Two female siblings originally diagnosed with "cerebral palsy" had received long-term treatment with no significant improvement in perennial paralysis and language skills. Family WES tests found that both girls inherited pathogenic mutations in the GCH1 gene associated with the metabolic disease Dopa-responsive dystonia (DRD). Both girls have now been successfully effectively treated by oral Medopa (Benserazide-Levodopa), reducing the severity of symptoms and improving their quality of life. This case fully demonstrates the important role of WES in the precise diagnosis and treatment of genetic diseases.


Why choose Berry Genomics for WES

Integrated professional teams for sequencing, data analysis and reporting

Fast turnaround time

Comprehensive disease report for clinical geneticist, including supplementary file listing all potentially pathogenic mutations

Option of uploading raw data by Cloud to local hospitals for secure storage and reanalysis options

Competitive pricing

The clinical significance of WES/CES

Can provide a precise diagnosis for children with unexplained phenotypes where previous testing has failed to give the answer

Can help explain the genetic basis of fetal structural abnormalities detected by ultrasound during pregnancy

Can point the way to potential treatment options for children to improve their health and quality of life

Can guide the development of prenatal and preimplantation genetic tests so couples

can confidently proceed to have a second child free of the familial disease condition



 
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