Hereditary neurological disease risk assessment
diagnostic genetic testing service
Categories of Testing
Genetic testing for dementia
Dementia Panel
Purpose
According to the 2019 Global Dementia Report of the Alzheimer’s Disease International (ADI), it is estimated that there are more than 50 million people with dementia worldwide. About one person suffers from dementia every three seconds. 1 in 80 have dementia in Taiwan population. Dementia is a group of symptoms that affects the patient’s memory, language ability and cognitive functions.
Leopard Gene applies next-generation sequencing to sequence 25 genes related to Alzheimer’s disease, frontotemporal dementia, Lewy body dementia (including dementia caused by Parkinson’s disease), and vascular dementia. The genetic testing results can be used to assist in the clinical diagnosis, risk evaluation and personalized treatment for early-onset dementia patients.
ApoE Genotyping
ApoE Genotyping
Purpose
On average, 1 in 80 have dementia in Taiwan population. Dementia is a group of symptoms that affects the patient’s memory, language ability and cognitive functions. Alzheimer’s disease is the most common neurodegenerative disease, accounting for approximately 60% to 80% of dementia cases.
Apolipoprotein E (ApoE) gene is located on the 19th chromosome in human. It is a lipoprotein of which the main function is to metabolize cholesterol in liver and to regulate the fat circulating in blood. ApoE genotypes have a close relation to the occurrence of cardiovascular disease, cerebral stroke and Alzheimer’s disease. There are three kinds of ApoE alleles, namely ε2, ε3, and ε4, which contribute to six genotypes. Clinical studies found that more than 50% of Alzheimer’s patients carry ε4 allele. Incidence rate of Alzheimer for ε4 carriers is 3-5 times higher than those who carry other alleles. Moreover, the incidence rate of Alzheimer increases up to 5-15 times than those who carry other alleles for ε4/ε4 homozygous carriers.
Leopard Gene applies next-generation sequencing to sequence ApoE. The genetic testing results can be used to assist in the clinical diagnosis of Alzheimer’s disease, risk evaluation and personalized treatment for dementia patients.
Epilepsy genetic testing
Epilepsy Panel
Purpose
Epilepsy is an unprovoked and recurrent neurological disease. The common symptoms include sudden coma, general or local convulsions, etc. Studies have shown that some of the causes are highly genetic, such as, autosomal dominant nocturnal frontal lobe epilepsy, epileptic encephalopathy, early infantile epileptic encephalopathy, dravet syndrome, tuberous sclerosis, absence epilepsy, different lesions familial focal epilepsy, juvenile myoclonic epilepsy, etc.
Leopard Gene applies Next Generation Sequencing (NGS) to sequence the coding region (WES) and analyze the genes related to the pathogenic genetic variant related to epilepsy. The result will indicate whether a patient has a potential risk of developing disease and provides a reference for clinicians in diagnosis, treatment, and medication.
Frequently asked questions
Dementia is not a single disease, but a combination of symptoms. This group of symptoms are mainly cognitive dysfunctions affecting memory, time and space orientation, judgment, calculation, abstract thinking, and language. The severity of these symptoms is sufficient to affect the individual’s interpersonal relationships and work ability. At the same time, symptoms such as interfering behavior and emotional state, personality changes, delusions or hallucinations may appear. More than 90% of the cases will have psycho-behavioral symptoms during the course of dementia and increase the physical, psychological, social and economic burdens of caregivers, as well as increase social costs.
The various types of dementia include Alzheimer’s disease, frontotemporal dementia, vascular dementia, Lewy body dementia, Parkinson’s disease, and Huntington’s disease, alcoholic dementia, dementia caused by Multiple Sclerosis, dementia caused by Down’s Syndrome, dementia caused by HIV/AIDS, the most common being Alzheimer’s disease.
Only a small part of dementia is inherited in the family. People with a history of dementia in the family for more than two generations have a higher possibility. Family hereditary dementia includes Alzheimer’s disease, vascular dementia, Huntington’s disease, hereditary frontotemporal type (FTD) dementia.
Diagnosing the progression of early dementia is very difficult. If appropriate treatment can be started at the beginning of the disease, the prognosis of the disease and the quality of life can be greatly improved. Genetic testing for dementia can quickly be used as an auxiliary basis for clinical diagnosis of dementia, providing you with the genetic information of the body, preventing it from happening in the future and effectively delaying or preventing the occurrence of diseases.