MT-TK Gene MERRF Syndrome MT-TK Related Genetic Test
Test Name: MT-TK Gene MERRF Syndrome MT-TK Related Genetic Test
Components: DNA Labs UAE
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: Osteology Dermatology Immunology Disorders
Doctor: Dermatologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for MT-TK Gene MERRF Syndrome, MT-TK Related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TK Gene MERRF Syndrome, MT-TK Related NGS Genetic DNA Test gene MT-TK.
Test Details: MT-TK gene (also known as tRNA lysine) is a gene located in the mitochondrial DNA (mtDNA) that encodes for a transfer RNA molecule involved in protein synthesis within the mitochondria. Mutations in the MT-TK gene can lead to a variety of mitochondrial disorders, including MERRF syndrome.
MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibers) is a rare genetic disorder characterized by a combination of myoclonic seizures (brief, shock-like muscle jerks), muscle weakness, ataxia (uncoordinated movements), and ragged-red fibers seen under a microscope in muscle biopsies. MERRF syndrome is typically caused by a specific mutation in the MT-TK gene, known as the m.8344A>G mutation.
To diagnose MERRF syndrome or other mitochondrial disorders caused by MT-TK gene mutations, a genetic test called MT-TK related NGS (Next-Generation Sequencing) can be performed. This test involves sequencing the entire MT-TK gene and analyzing it for any pathogenic mutations or variants. NGS technology allows for the detection of both known and novel mutations in the gene.
The MT-TK related NGS genetic test can be helpful in confirming a diagnosis of MERRF syndrome or other MT-TK gene-related mitochondrial disorders. It can also provide information about the specific mutation present, which can be useful for genetic counseling and family planning purposes. Additionally, this test can help differentiate MERRF syndrome from other similar disorders with overlapping symptoms.
It’s important to note that genetic testing should be done under the guidance of a healthcare professional, such as a geneticist or genetic counselor, who can interpret the results and provide appropriate counseling and management recommendations.
Test Name | MT-TK Gene MERRF syndrome MT-TK related Genetic Test |
---|---|
Components | |
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 | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic DNA Test gene MT-TK |
Test Details |
MT-TK gene (also known as tRNA lysine) is a gene located in the mitochondrial DNA (mtDNA) that encodes for a transfer RNA molecule involved in protein synthesis within the mitochondria. Mutations in the MT-TK gene can lead to a variety of mitochondrial disorders, including MERRF syndrome. MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibers) is a rare genetic disorder characterized by a combination of myoclonic seizures (brief, shock-like muscle jerks), muscle weakness, ataxia (uncoordinated movements), and ragged-red fibers seen under a microscope in muscle biopsies. MERRF syndrome is typically caused by a specific mutation in the MT-TK gene, known as the m.8344A>G mutation. To diagnose MERRF syndrome or other mitochondrial disorders caused by MT-TK gene mutations, a genetic test called MT-TK related NGS (Next-Generation Sequencing) can be performed. This test involves sequencing the entire MT-TK gene and analyzing it for any pathogenic mutations or variants. NGS technology allows for the detection of both known and novel mutations in the gene. The MT-TK related NGS genetic test can be helpful in confirming a diagnosis of MERRF syndrome or other MT-TK gene-related mitochondrial disorders. It can also provide information about the specific mutation present, which can be useful for genetic counseling and family planning purposes. Additionally, this test can help differentiate MERRF syndrome from other similar disorders with overlapping symptoms. It’s important to note that genetic testing should be done under the guidance of a healthcare professional, such as a geneticist or genetic counselor, who can interpret the results and provide appropriate counseling and management recommendations. |