MERRF Myoclonic Epilepsy Associated with Ragged Red Fibres Mutation Detection Test sale cost 2810 AED
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MERRF Myoclonic Epilepsy Associated with Ragged Red Fibres Mutation Detection Test Cost

Original price was: 3,120 د.إ.Current price is: 2,810 د.إ.

-10%

The MERRF Myoclonic Epilepsy Associated with Ragged Red Fibres Mutation Detection Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations associated with Myoclonic Epilepsy with Ragged Red Fibers (MERRF) syndrome. MERRF is a rare, inherited neurodegenerative disorder characterized by a combination of myoclonus, epilepsy, ataxia, and muscle weakness. The hallmark of this condition, visible under a microscope, is the presence of ragged red fibers in muscle cells, indicating abnormal mitochondrial accumulation.

This test specifically targets the genetic mutations known to cause MERRF, providing a crucial tool for accurate diagnosis. By analyzing the patient’s DNA, the test can confirm the presence of these mutations, enabling healthcare providers to make informed decisions regarding the patient’s management and treatment. Early detection through genetic testing is vital for managing symptoms and improving the quality of life for individuals with MERRF.

At DNA Labs UAE, the cost of the MERRF Mutation Detection Test is set at 2810 AED. This investment in health allows for a comprehensive understanding of the genetic basis of the patient’s condition, facilitating targeted interventions and support for affected individuals and their families.

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MERRF MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES MUTATION DETECTION Test

At DNA Labs UAE, we offer the MERRF MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES MUTATION DETECTION Test to identify mutations in the mitochondrial DNA (mtDNA) associated with MERRF syndrome. This rare genetic disorder is characterized by myoclonic epilepsy (seizures), muscle weakness, ataxia (loss of coordination), and the presence of ragged red fibers in muscle biopsies.

Test Details

The MERRF Mutation Detection Test involves collecting a blood or tissue sample from the individual suspected of having MERRF syndrome. The DNA is then extracted from the sample, and specific regions of the mtDNA are amplified and sequenced. This allows for the identification of any mutations or abnormalities in the mtDNA associated with MERRF syndrome.

The test is valuable in confirming a diagnosis of MERRF syndrome in individuals with symptoms consistent with the disorder. It can also be used for carrier testing in individuals with a family history of MERRF syndrome or for prenatal testing in couples at risk of having a child with the disorder.

Please note that the MERRF Mutation Detection Test is a specialized genetic test and may not be available at all medical facilities. It is recommended to consult with a healthcare provider or genetic counselor for more information about the availability and appropriateness of this test in specific cases.

Test Components and Price

Test Name: MERRF MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES MUTATION DETECTION Test

Components: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory

Price: 2810.0 AED

Sample Condition and Delivery

Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.

Report Delivery: Sample Daily by 11 am; Report 10 days

Method and Test Type

Method: PCR

Test Type: Disorders of Nervous System

Doctor and Test Department

Doctor: Neurologist

Test Department: MOLECULAR DIAGNOSTICS

Pre Test Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Test Name MERRF MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED RED FIBRES MUTATION DETECTION Test
Components
Price 2810.0 AED
Sample Condition 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery Sample Dailyby 11 am; Report 10 days
Method PCR
Test type Disorders of Nervous System
Doctor Neurologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details

The MERRF (Myoclonic Epilepsy Associated with Ragged Red Fibers) Mutation Detection Test is a genetic test used to identify mutations in the mitochondrial DNA (mtDNA) associated with MERRF syndrome. MERRF syndrome is a rare genetic disorder characterized by myoclonic epilepsy (seizures), muscle weakness, ataxia (loss of coordination), and the presence of ragged red fibers in muscle biopsies.

The test typically involves collecting a blood or tissue sample from the individual suspected of having MERRF syndrome. The DNA is then extracted from the sample, and specific regions of the mtDNA are amplified and sequenced. This allows for the identification of any mutations or abnormalities in the mtDNA associated with MERRF syndrome.

The MERRF Mutation Detection Test can help confirm a diagnosis of MERRF syndrome in individuals with symptoms consistent with the disorder. It can also be used for carrier testing in individuals with a family history of MERRF syndrome or for prenatal testing in couples at risk of having a child with the disorder.

It is important to note that the MERRF Mutation Detection Test is a specialized genetic test and may not be available at all medical facilities. A healthcare provider or genetic counselor can provide more information about the availability and appropriateness of this test in specific cases.

SKU: TEST-4821 Category:

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