Clinical Whole Exome Sequencing ELC Biogen Pakistan

Clinical Exome Sequencing

Whole Exome Sequencing examines the DNA sequence of over 180,000 exons across 22,000 genes, screening for more than 4000 monogenic diseases.

Why Choose Clinical Whole Exome Sequencing?

Accurately provides a straightforward and cost-effective approach for identifying the genetic variants responsible for a wide range of genetic disorders, thereby assisting clinical diagnosis. Many genetic disorders are amenable to effective treatment upon timely diagnosis. Early detection and intervention can lead to more favorable clinical outcomes.

VISTA™ Chromosome Sequencing

Test uses NGS-based low coverage Whole Genome Sequencing (WGS) to detect chromosome abnormalities before or during pregnancy.

Conditions Screened: Sequencing of over 180,000 exons across 22,000 genes for more than 4000 monogenic diseases. Contact us for more information.

Suitable for: Intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders

Xome – Clinical Whole Exome Sequencing
- (Sequencing of exome means ~22,000 genes for a wide range of genetic disorders i.e. >4000 monogenic diseases)
Xome – Targeted Monogenic Disease Testing
- (Hereditary Thalassemia, Hearing loss, Muscular Disease, Cystic Fibrosis, Neurofibromatosis, Hypertrophic Cardiomyopathy, Inherited Metabolic disorders, Retinitis Pigmentosa, Polycystic Kidney Disease and Marfan Syndrome).