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NHLRC1 Gene Myoclonic Epilepsy of Lafora Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The NHLRC1 Gene Myoclonic Epilepsy of Lafora Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to detect mutations in the NHLRC1 gene, which are linked to Lafora disease, a rare and severe form of myoclonic epilepsy. Lafora disease is characterized by the accumulation of Lafora bodies within cells, leading to progressive neurological deterioration that typically begins in late childhood or adolescence. Symptoms include myoclonus, seizures, and cognitive decline, among others.

The test, priced at 4400 AED, involves analyzing the patient’s DNA to identify specific genetic alterations in the NHLRC1 gene that are known to cause Lafora disease. This genetic insight is crucial for confirming a diagnosis, understanding the disease’s progression, and potentially guiding treatment decisions. The procedure is carried out in the state-of-the-art facilities of DNA Labs UAE, ensuring high-quality, reliable results. Identifying carriers of the mutation can also provide valuable information for family planning purposes, as Lafora disease is inherited in an autosomal recessive pattern.

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NHLRC1 Gene Myoclonic Epilepsy of Lafora Genetic Test

At DNA Labs UAE, we offer the NHLRC1 Gene Myoclonic Epilepsy of Lafora Genetic Test for individuals who are suspected of having this rare genetic disorder. This test helps in the diagnosis and management of myoclonic epilepsy of Lafora, a condition characterized by recurrent seizures, myoclonus, and progressive neurological deterioration.

Test Components and Price

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information

Prior to undergoing the NHLRC1 Gene Myoclonic Epilepsy of Lafora NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with NHLRC1 Gene Myoclonic Epilepsy of Lafora.

Test Details

The NHLRC1 gene is associated with myoclonic epilepsy of Lafora, a rare genetic disorder. Our NGS (Next-Generation Sequencing) genetic testing method allows for the simultaneous analysis of multiple genes to identify any mutations or variations associated with this disorder. Specifically, NGS testing can identify mutations in the NHLRC1 gene.

During the NGS test, the DNA of an individual is sequenced to determine the specific sequence of nucleotides in the NHLRC1 gene. This sequence is then compared to a reference sequence to identify any differences or mutations. If a mutation is found, it can help confirm a diagnosis of myoclonic epilepsy of Lafora.

NGS testing is a powerful tool for genetic diagnosis as it provides a comprehensive assessment of an individual’s genetic profile. It can help identify the underlying cause of a genetic disorder and provide valuable information for treatment and management decisions.

Test Name NHLRC1 Gene Myoclonic epilepsy of Lafora Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for NHLRC1 Gene Myoclonic epilepsy of Lafora NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NHLRC1 Gene Myoclonic epilepsy of Lafora
Test Details

The NHLRC1 gene is associated with a rare genetic disorder called myoclonic epilepsy of Lafora. This disorder is characterized by recurrent seizures, myoclonus (involuntary muscle jerks), and progressive neurological deterioration.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify any mutations or variations that may be associated with a particular disorder. In the case of myoclonic epilepsy of Lafora, NGS testing can be used to identify mutations in the NHLRC1 gene.

The NGS test involves sequencing the DNA of an individual to determine the specific sequence of nucleotides in the NHLRC1 gene. This information is then compared to a reference sequence to identify any differences or mutations. If a mutation is found, it can help confirm a diagnosis of myoclonic epilepsy of Lafora.

NGS testing is a powerful tool for genetic diagnosis as it allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of an individual’s genetic profile. It can help in identifying the underlying cause of a genetic disorder and provide valuable information for treatment and management decisions.

SKU: TEST-1785 Category:

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