How Clinical Whole Exome Sequencing Helped 3-Year-Old Kosta - Patient's Voice

BGI Genomics Hong Kong

conducted at the Ginekalix laboratory in Skopje, Macedonia. cWES is a type of genetic test that sequences, or reads, the exons or coding regions of the genes in a person's genome. These regions are responsible for producing proteins and are often where genetic disorders are found. Kosta was identified with autosomal recessive spinocerebellar ataxia-2 (ARCA2), caused by a PMPCA gene mutation. This rare condition led to symptoms like cerebellar atrophy, epilepsy, and developmental delay.

"When Kosta's parents came to us, they already had genetic test results showing no trace of variant of uncertain significance (VUS) mutations or genetic changes whose impact on health is not clearly understood. I proposed a cWES trio test covering Kosta and his parents, which revealed two mutations that both parents are carriers for, giving us a clearer picture of Kosta's condition", says Andrea Maneska, Molecular Biologist and Physiologist at Ginekalix.

Following a thorough analysis of test results, the Ginekalix team referred him to a prestigious clinic based in Rochester, United States, for treatment. This U.S. clinic conducted whole genome sequencing, confirming cWES test validity and accuracy. Supported by these results, Kosta was enrolled in a clinical study. His journey continues under the care of a distinguished geneticist specializing in pediatric cases, underscoring the significance of Kosta's case for the medical community.

Kosta had shown signs of improvement. He was able to sit for longer periods and raise his head independently. Although seizures persisted, their frequency had reduced to 5-6 occurrences per day. Currently, Kosta and his family remain in the U.S., seeking therapies that could further improve his condition. Individuals may contribute to Kosta's ongoing treatment through this link. 

Kosta's experience underscores the importance of cWES in understanding complex genetic conditions, which can help medical professionals propose personalized therapies.

Introducing BGI Genomics XOME cWES 

cWES is intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders and especially heterogeneous phenotypes. cWES sequences over 180,000 exons across 22,000 genes for more than 4,000 monogenic diseases.

Note: This content has been made available by BGI Genomics for informational and educational purposes only. It is not intended to be a substitute for professional medical advice, diagnosis, or treatment.

About GINEKALIX

GINEKALIX DOOEL is a company that was founded in Skopje, Macedonia. It specializes in the field of IVF medical equipment, drugs and medical devices, genetic testing, stem cell banking, interventional radiology, gynecology and obstetrics.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen China, is the world's leading integrated solutions provider of precision medicine. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.

Photo - https://mma.prnewswire.com/media/2323455/Kosta_and_mum.jpg

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