RARE DISEASE

Diagnose the Undiagnosed

Rare Disease takes a longer period to diagnose or undiagnosed cases can occur, therefore appropriate treatment, prediction of progress, and genetic counseling can be difficult. However, simultaneously sequencing human genes related to genetic disorders using next generation sequencer and microarray can increase diagnosis yield in rare diseases.

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Hereditary rare diseases are extremely hard to diagnose. There are around 7,000 rare diseases known up to date. Most patients take years and spend a lot of money and efforts to find out the name of their disease and the cause. It is important to identify the disease causing genes to make the right diagnosis which will help for the right treatment.

GC Genome's Rare Disease services can help in the diagnosis of rare diseases with a wide variety of symptoms, especially mitochondrial diseases, which are characterized by no features. The most comprehensive genetic testing can end the diagnosis of the disease. When it is performed first, there is no need to go through multiple genetic tests, which shortens the diagnosis period and reduce the cost of treatment that the patient has no bear for the rest of life.

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DES
(Diagnostic Exome Sequencing)

DES analyses more than 5,000 clinically important genes related to Mendelian disorders based on the latest research data. Clinically important gene of rare disease including mtDNA is tested.

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WES
(Whole Exome Sequencing)

Perhaps the most widely used targeted sequencing method is exome sequencing. The exome(the protein coding region of the human genome) represents less than 2% of the genome, but contains ~85% of known disease-related variants, making whole exome sequencing a cost effective alternative whole genole sequencing.

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DGS
(Diagnostic Whole Genome Sequencing)

The most comprehensive analysis of the human genome is diagnostic genome sequencing. It analyzes exon, intron, splice site, and regulatory regions. This can be recommended as a follow up test if no mutation was found in the previous test.

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CMA
(Chromosomal Microarray)

CMA checks for the deletion/duplication of genes across the entire genome. It provides an accurate diagnosis of various genetic abnormalities such as hereditary diseases., developmental disorders, mental retardation, and congenital defects that cannot be diagnosed by previous existing chromosomal analysis.