ACHE Gene Acetylcholinesterase Deficiency Genetic Test
Test Name: ACHE Gene Acetylcholinesterase Deficiency Genetic Test
Components: ACHE gene analysis
Price: 4400.0 AED
Sample Condition: Blood
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical history of patient going for ACHE gene acetylcholinesterase deficiency NGS genetic DNA test. A genetic counseling session to draw a pedigree chart of affected family members.
Test Details
The ACHE gene acetylcholinesterase deficiency NGS genetic test is a type of genetic test that analyzes the ACHE gene for mutations or variations that may be associated with acetylcholinesterase deficiency. Acetylcholinesterase is an enzyme that breaks down the neurotransmitter acetylcholine, which is involved in various functions in the nervous system.
Acetylcholinesterase deficiency can lead to a buildup of acetylcholine, resulting in symptoms such as muscle weakness, respiratory problems, and developmental delays. The NGS (Next-Generation Sequencing) technology allows for the simultaneous analysis of multiple genes, making it an efficient method for genetic testing.
The ACHE gene encodes the acetylcholinesterase enzyme, and mutations in this gene can disrupt its normal function, leading to acetylcholinesterase deficiency. The NGS genetic test for ACHE gene mutations can help diagnose individuals with this condition and provide valuable information for their management and treatment.
This type of genetic test typically involves obtaining a DNA sample, usually through a blood sample or saliva sample. The DNA is then sequenced using NGS technology to identify any variations or mutations in the ACHE gene. The results of the test can help confirm a diagnosis of acetylcholinesterase deficiency and guide appropriate treatment options.
It is important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetics. They can provide counseling and support to individuals undergoing testing and help them understand the implications of the test results.
Test Name | ACHE Gene Acetycholinesterase deficiency Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for ACHE Gene Acetycholinesterase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Acetycholinesterase deficiency |
Test Details |
ACHE gene acetylcholinesterase deficiency NGS genetic test is a type of genetic test that analyzes the ACHE gene for mutations or variations that may be associated with acetylcholinesterase deficiency. Acetylcholinesterase is an enzyme that breaks down the neurotransmitter acetylcholine, which is involved in various functions in the nervous system. Acetylcholinesterase deficiency can lead to a buildup of acetylcholine, resulting in symptoms such as muscle weakness, respiratory problems, and developmental delays. NGS (Next-Generation Sequencing) is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes, making it an efficient method for genetic testing. The ACHE gene encodes the acetylcholinesterase enzyme, and mutations in this gene can disrupt its normal function, leading to acetylcholinesterase deficiency. The NGS genetic test for ACHE gene mutations can help diagnose individuals with this condition and provide valuable information for their management and treatment. This type of genetic test typically involves obtaining a DNA sample, usually through a blood sample or saliva sample. The DNA is then sequenced using NGS technology to identify any variations or mutations in the ACHE gene. The results of the test can help confirm a diagnosis of acetylcholinesterase deficiency and guide appropriate treatment options. It is important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetics. They can provide counseling and support to individuals undergoing testing and help them understand the implications of the test results. |