The TMEM70 gene plays a critical role in the proper function of mitochondrial complex V, also known as ATP synthase, which is essential for energy production within cells. Mutations in the TMEM70 gene can lead to a rare disorder known as mitochondrial complex V ATP synthase deficiency nuclear type 2. This condition is characterized by a wide range of symptoms, including metabolic acidosis, hypotonia, and developmental delay, due to the inefficient production of ATP, the primary energy carrier in cells.
To diagnose this condition, genetic testing is crucial. DNA Labs UAE offers a specific test targeting the TMEM70 gene to identify mutations that may lead to mitochondrial complex V ATP synthase deficiency nuclear type 2. The test is a comprehensive analysis of the TMEM70 gene to detect any genetic abnormalities that could impair the function of the ATP synthase complex.
The cost of the test is 4400 AED. This investment covers the process of collecting a DNA sample, usually through a blood draw or cheek swab, and the subsequent laboratory analysis to identify any mutations in the TMEM70 gene. The results from this test can provide essential information for the diagnosis, and potentially the management, of the condition. It is a crucial step for families seeking answers to unexplained symptoms related to energy metabolism disorders.
The ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the ATP5F1E gene. This gene plays a crucial role in the functioning of mitochondrial complex V, also known as ATP synthase, which is essential for the production of ATP, the main energy currency of the cell. Mutations in the ATP5F1E gene can lead to mitochondrial complex V deficiency, a condition that can affect various bodily systems and lead to a range of clinical symptoms, including neurological disorders, muscle weakness, and heart problems.
This genetic test is performed at DNA Labs UAE, a leading facility in genetic diagnostics, offering a comprehensive range of genetic testing services. The test involves collecting a DNA sample, typically through a blood draw, and then analyzing the genetic material for specific mutations in the ATP5F1E gene that are known to cause mitochondrial complex V ATP synthase deficiency nuclear type 3.
The cost of the ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test is 4400 AED. The test is designed for individuals who are experiencing symptoms suggestive of mitochondrial disorders, or who have a family history of such conditions, providing them with crucial information for diagnosis, treatment planning, and understanding their risk of passing the condition on to their offspring.
The ATP5F1A Gene Mitochondrial Complex V Deficiency Nuclear Type 4 Genetic Test is a specialized diagnostic examination offered by DNA Labs UAE. This test is designed to identify mutations in the ATP5F1A gene, which are implicated in Mitochondrial Complex V Deficiency, Nuclear Type 4. This condition is a rare genetic disorder that affects the body's ability to produce energy at the cellular level, leading to a range of symptoms that can include muscle weakness, neurological deficits, and developmental delays.
Mitochondrial Complex V, also known as ATP synthase, plays a crucial role in the final step of oxidative phosphorylation, where the majority of cellular ATP, the energy currency of the cell, is produced. Mutations in the ATP5F1A gene can impair the function of Complex V, resulting in reduced ATP production and the aforementioned symptoms.
The genetic test conducted at DNA Labs UAE involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed for specific mutations in the ATP5F1A gene. This test is crucial for the accurate diagnosis of Mitochondrial Complex V Deficiency, Nuclear Type 4, and can provide essential information for managing the condition, including potential treatments and understanding the risk of passing the mutation to offspring.
The cost of the ATP5F1A Gene Mitochondrial Complex V Deficiency Nuclear Type 4 Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity of the test and the specialized technology and expertise required to perform it, the cost reflects the comprehensive analysis and detailed report provided to patients and their healthcare providers. This test is a valuable tool for individuals and families seeking answers to unexplained symptoms related to energy metabolism disorders.
The AKAP1 gene plays a critical role in the proper functioning of mitochondria, the energy-producing organelles within our cells. Mutations in the AKAP1 gene can lead to a range of mitochondrial disorders, which can manifest in various ways depending on the tissues affected. These disorders can have profound effects on health, potentially impacting the nervous system, muscles, heart, and other vital organs.
To diagnose conditions related to the AKAP1 gene, genetic testing can be invaluable. In the UAE, DNA Labs offers a specialized test designed to identify mutations in the AKAP1 gene. This test is crucial for individuals suspected of having mitochondrial disorders linked to the AKAP1 gene, as it can confirm the diagnosis and help in the management of the condition.
The cost of the AKAP1-related genetic test at DNA Labs UAE is 4400 AED. This investment covers the detailed analysis required to detect any mutations in the AKAP1 gene. By opting for this test, patients and their families can gain essential insights into their genetic makeup, which can inform treatment strategies and provide a clearer understanding of the prognosis for mitochondrial disorders associated with AKAP1 mutations.
The DGUOK Gene Mitochondrial DNA Depletion Syndrome Genetic Test is a specialized diagnostic tool used to identify mutations in the DGUOK gene, which are linked to mitochondrial DNA depletion syndrome (MDDS). MDDS is a group of autosomal recessive disorders characterized by a significant reduction in mitochondrial DNA in affected tissues, leading to a wide range of clinical manifestations including liver failure, neurological abnormalities, and muscle weakness. The test is essential for confirming the diagnosis, understanding the disease's progression, and making informed decisions regarding management and treatment.
Performed at DNA Labs UAE, this genetic test involves analyzing the patient's DNA to detect mutations in the DGUOK gene. The process is meticulous and requires advanced laboratory techniques to ensure accuracy and reliability. The cost of the test is set at 4400 AED, reflecting the specialized nature of the analysis and the sophisticated technology employed.
By opting for this test at DNA Labs UAE, patients and their families gain crucial insights into the genetic underpinnings of mitochondrial DNA depletion syndrome, facilitating targeted interventions and enabling a better quality of life for affected individuals.
The SUCLA2 Gene Mitochondrial DNA Depletion Syndrome Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the SUCLA2 gene. This gene plays a critical role in mitochondrial function and energy production within cells. Mutations in the SUCLA2 gene can lead to mitochondrial DNA depletion syndrome (MDS), a severe and often fatal condition characterized by a significant reduction in mitochondrial DNA within cells. This condition manifests with a wide range of symptoms, including muscle weakness, neurodevelopmental delays, and metabolic disturbances.
The test is particularly important for individuals showing symptoms suggestive of MDS or those with a family history of the condition, as early diagnosis can significantly impact management and treatment strategies. The process involves collecting a DNA sample, usually through a blood draw, which is then analyzed in the laboratory to detect any mutations in the SUCLA2 gene.
The cost of the SUCLA2 Gene Mitochondrial DNA Depletion Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis necessary to provide accurate and reliable results, aiding in the diagnosis of this complex condition. Given the specialized nature of this test and its potential to influence patient care, it represents a crucial step in the diagnostic process for affected individuals and their families.
The TK2 Gene Mitochondrial DNA Depletion Syndrome Genetic Test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to identify mutations in the TK2 gene, which are associated with mitochondrial DNA depletion syndrome (MDS). This condition is a rare, autosomal recessive disorder that leads to a significant reduction in mitochondrial DNA in affected tissues, primarily impacting muscular and neurological functions. Symptoms can vary but often include muscle weakness, motor delays, and respiratory issues.
The test, priced at 4400 AED, involves collecting a DNA sample from the patient, usually through a blood draw, and analyzing it for specific genetic mutations in the TK2 gene. The results can provide crucial information for the diagnosis, management, and treatment planning of the syndrome, allowing for a more targeted approach to care. DNA Labs UAE utilizes advanced genetic sequencing technologies to ensure accurate and reliable testing outcomes, supporting patients and healthcare providers in navigating the complexities of mitochondrial DNA depletion syndrome.
The RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B (MNGIE Type) genetic test is a specialized diagnostic examination offered by DNA Labs UAE, aimed at detecting mutations in the RRM2B gene. These mutations are responsible for a rare condition known as Mitochondrial DNA Depletion Syndrome 8B, also referred to as the MNGIE type. This syndrome is characterized by a range of symptoms including gastrointestinal dysfunctions, peripheral neuropathy, and progressive external ophthalmoplegia, stemming from a reduction in mitochondrial DNA within cells.
The test is crucial for the accurate diagnosis and understanding of the syndrome, enabling healthcare providers to tailor treatment and management strategies effectively for affected individuals. Conducted at DNA Labs UAE, a facility known for its state-of-the-art genetic testing services, the test involves collecting a DNA sample from the patient, usually through a blood draw, and then analyzing it for specific mutations in the RRM2B gene.
The cost of the RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B MNGIE Type genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to identify the genetic markers of the syndrome, providing essential information for patients and their families. By confirming the diagnosis, individuals can gain access to supportive therapies and interventions that may improve quality of life and manage symptoms associated with the condition.
The MGME1 gene mitochondrial DNA depletion syndrome type 11 (MTDPS11) genetic test is a specialized diagnostic tool used to identify mutations in the MGME1 gene, which can lead to mitochondrial DNA depletion syndrome type 11. This condition is a rare autosomal recessive disorder characterized by a significant reduction in mitochondrial DNA within cells, leading to a variety of symptoms including muscle weakness, neurological problems, and other systemic issues.
The test is performed by extracting DNA from a patient's blood sample and analyzing it for specific mutations in the MGME1 gene that are known to cause the syndrome. This precise genetic testing is crucial for the accurate diagnosis of MTDPS11, enabling healthcare providers to tailor treatment plans to the specific needs of the patient, and also offers valuable information for family planning.
The cost of the MGME1 gene mitochondrial DNA depletion syndrome type 11 genetic test is 4400 AED. This test is available at DNA Labs UAE, a leading laboratory known for its advanced genetic testing services. DNA Labs UAE employs state-of-the-art technology and follows stringent protocols to ensure the accuracy and reliability of the test results, providing patients and their families with critical information for managing the condition.
The FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 Genetic Test is a specialized diagnostic procedure designed to identify mutations in the FBXL4 gene, which are linked to Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13). This condition is a rare genetic disorder characterized by a significant reduction in mitochondrial DNA within cells, leading to a spectrum of clinical manifestations including muscle weakness, neurological impairments, and developmental delays, among others. The test is crucial for early diagnosis and management of the syndrome, enabling healthcare providers to tailor treatment plans to the specific needs of the patient.
Performed at DNA Labs UAE, a leading facility in genetic testing, the test involves analyzing the patient's DNA sample, usually obtained through a blood draw, to detect mutations in the FBXL4 gene. The cost of the test is 4400 AED, reflecting the comprehensive analysis and the sophisticated technology employed to ensure accurate diagnosis. By identifying the genetic basis of MTDPS13, this test plays a pivotal role in guiding clinical interventions and supporting families in understanding the implications of the disorder.
