The AMPD2 gene pontocerebellar hypoplasia type 9 genetic test is a specialized diagnostic tool used to identify mutations in the AMPD2 gene, which are associated with pontocerebellar hypoplasia type 9 (PCH9). This rare genetic disorder is characterized by the underdevelopment of the cerebellum and pons, critical regions of the brain that are involved in movement coordination and communication between different parts of the brain. Symptoms of PCH9 can include severe developmental delay, motor impairments, and intellectual disabilities.
This genetic test is essential for confirming a diagnosis of PCH9, allowing for appropriate management and care planning for affected individuals. The test involves analyzing the patient's DNA, extracted from a blood sample, to look for specific mutations in the AMPD2 gene that are known to cause the condition.
Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test ensures high accuracy and reliability. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to perform this specialized analysis. By providing a definitive diagnosis, the test plays a crucial role in the medical management of patients with pontocerebellar hypoplasia type 9, guiding treatment decisions and offering families critical information about the condition.
The COL4A2 gene porencephaly type 2 genetic test is a specialized diagnostic tool designed to detect mutations in the COL4A2 gene, which are associated with porencephaly type 2, a rare neurological disorder. This condition is characterized by the presence of cysts or cavities within the cerebral hemispheres of the brain, leading to a range of symptoms such as developmental delay, seizures, and in some cases, hemiplegia (paralysis on one side of the body). The COL4A2 gene plays a crucial role in the formation and stability of blood vessels in the brain, and mutations in this gene can disrupt these processes, leading to the development of porencephaly.
The test is conducted at DNA Labs UAE, a leading facility in genetic diagnostics, offering a comprehensive range of genetic testing services. The cost of the COL4A2 gene porencephaly type 2 genetic test is 4400 AED. This test is particularly valuable for families with a history of the condition or for individuals presenting symptoms suggestive of porencephaly type 2. Early and accurate diagnosis through this genetic test can guide clinical management, inform prognosis, and assist in genetic counseling for affected families, helping them understand the risks of recurrence in future pregnancies.
The SCN4A gene potassium-aggravated myotonia genetic test is a specialized diagnostic procedure designed to identify mutations in the SCN4A gene, which are known to cause potassium-aggravated myotonia. This condition is a type of myotonia, characterized by muscle stiffness that worsens with potassium-rich foods or activities that increase potassium levels in the blood. The SCN4A gene plays a crucial role in the function of sodium channels in muscle cells, and mutations can disrupt normal muscle relaxation, leading to symptoms of stiffness and muscle weakness.
Conducted at DNA Labs UAE, this test offers a precise method for diagnosing individuals who may exhibit symptoms of potassium-aggravated myotonia, enabling healthcare providers to tailor treatment plans more effectively. The test is priced at 4400 AED, reflecting the specialized nature of the genetic analysis and the expertise required to interpret the results. Through a simple blood sample, the test searches for specific genetic alterations in the SCN4A gene, providing insights that are critical for understanding the condition and exploring potential therapeutic strategies. This test represents an important tool in the field of genetic diagnostics, offering hope and direction for individuals affected by this rare muscular disorder.
The Chr. 15q11 Gene Prader-Willi Syndrome Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to detect abnormalities in the chromosome 15q11 region, which are associated with Prader-Willi Syndrome (PWS). PWS is a complex genetic condition that affects many parts of the body and is characterized by weak muscle tone (hypotonia), feeding difficulties in infancy, rapid weight gain and obesity beginning in childhood, intellectual disability, and often, behavioral problems.
This genetic test is crucial for early diagnosis and management of PWS, allowing for targeted interventions and support to improve the quality of life for individuals with the syndrome and their families. Conducted in the state-of-the-art facilities of DNA Labs UAE, the test involves analyzing the individual's DNA to look for specific genetic markers indicative of PWS, including deletions, uniparental disomy, or imprinting defects within the 15q11 region.
The cost of the Chr. 15q11 Gene Prader-Willi Syndrome Genetic Test is set at 4400 AED. This investment covers the comprehensive analysis necessary to accurately identify the genetic alterations associated with Prader-Willi Syndrome, providing families and healthcare providers with essential information for planning care and support.
The NDN Gene Prader-Willi Syndrome Genetic Test is a specialized diagnostic procedure aimed at detecting mutations in the NDN gene, which are associated with Prader-Willi Syndrome (PWS). This rare genetic disorder is characterized by a variety of symptoms, including reduced muscle tone, feeding difficulties in early infancy, rapid weight gain and obesity in early childhood, developmental delays, and sometimes, intellectual impairment. The test is crucial for early diagnosis and management of the condition, enabling healthcare providers to develop a comprehensive care plan tailored to the individual's needs.
Conducted at DNA Labs UAE, a leading facility in genetic testing, this test offers a reliable analysis for those suspected of having or carriers of the genetic markers for Prader-Willi Syndrome. With state-of-the-art technology and a team of expert geneticists, DNA Labs UAE ensures accurate and timely results. The cost of the NDN Gene Prader-Willi Syndrome Genetic Test is 4400 AED, reflecting the sophisticated nature of the genetic analysis and the invaluable insights it provides for affected individuals and their families. Early diagnosis through this test can significantly improve the quality of life for individuals with PWS by allowing for early intervention and support services.
The SNRPN gene plays a crucial role in the genetic testing for Prader-Willi Syndrome (PWS), a complex genetic disorder characterized by a variety of symptoms including developmental delays, poor muscle tone, feeding difficulties in infancy, and overeating in later childhood. This condition is caused by the loss of function of specific genes on chromosome 15, with the SNRPN gene being one of the key genes involved.
At DNA Labs UAE, individuals can undergo a genetic test specifically targeting the SNRPN gene to determine if they have Prader-Willi Syndrome. This test is particularly important for early diagnosis and intervention, which can significantly improve the quality of life for those affected by PWS. The process involves collecting a DNA sample, usually through a blood draw or a cheek swab, which is then analyzed in the laboratory for abnormalities associated with the SNRPN gene.
The cost of the SNRPN gene Prader-Willi Syndrome genetic test at DNA Labs UAE is 4400 AED. This price reflects the comprehensive nature of the test, including the sophisticated technology and expertise required to accurately identify mutations in the SNRPN gene. Early diagnosis through genetic testing can be a critical step in managing the symptoms of Prader-Willi Syndrome and providing the necessary support and treatments for those affected.
The ALS2 gene primary lateral sclerosis juvenile genetic test is a specialized diagnostic examination aimed at detecting mutations in the ALS2 gene, which are associated with the development of juvenile primary lateral sclerosis (JPLS). JPLS is a rare neurological disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This condition typically manifests in childhood or adolescence and progresses over time, leading to significant motor disabilities.
The test is conducted at DNA Labs UAE, a leading facility in genetic testing and analysis. The procedure involves collecting a DNA sample from the patient, usually through a blood draw or cheek swab. The sample is then analyzed using advanced genetic sequencing technologies to identify any mutations in the ALS2 gene that are indicative of JPLS.
The cost of the ALS2 gene primary lateral sclerosis juvenile genetic test at DNA Labs UAE is 4400 AED. This price reflects the comprehensive nature of the test, including the sophisticated technology and expertise required to accurately identify the genetic markers associated with the condition. Patients considering this test are often advised to consult with a genetic counselor or medical specialist to understand the implications of the results and to explore potential treatment options and management strategies for JPLS.
The POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1 Autosomal Dominant Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the POLG gene. These mutations are associated with a specific form of progressive external ophthalmoplegia (PEO), a condition characterized by weakness of the eye muscles and other systemic symptoms due to mitochondrial abnormalities. The test is crucial for confirming the diagnosis, understanding the disease's progression, and guiding treatment strategies.
Performed at DNA Labs UAE, the test involves analyzing the patient's DNA to detect deletions or mutations in the POLG gene, which plays a pivotal role in mitochondrial DNA replication and repair. Mutations in this gene can lead to mitochondrial dysfunction, manifesting in various symptoms, including muscle weakness, exercise intolerance, and neurological deficits, alongside the characteristic eye muscle weakness.
The cost of the test is 4400 AED, reflecting the comprehensive analysis and the specialized technology required to accurately identify the genetic alterations associated with this condition. Given the autosomal dominant inheritance pattern of this form of PEO, the test is also valuable for family planning and genetic counseling, providing crucial information for affected individuals and their families.
The SLC25A4 gene, associated with Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 (PEO2), plays a crucial role in mitochondrial function and energy production. PEO2 is a genetic disorder characterized by weakness in the muscles that control eye and eyelid movement, leading to drooping eyelids (ptosis) and difficulty moving the eyes (ophthalmoplegia). It may also involve muscle weakness in other parts of the body. This condition is autosomal dominant, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.
To diagnose this condition, a specific genetic test is available at DNA Labs UAE, which analyzes the SLC25A4 gene for mutations that are known to cause the disorder. The test is priced at 4400 AED. It is a critical step for individuals showing symptoms of PEO2 or those with a family history of the condition, as it can confirm the diagnosis and inform treatment strategies. Furthermore, the test can provide essential information for family planning decisions for those carrying the mutation.
The RNASEH1 gene plays a crucial role in maintaining the integrity of mitochondrial DNA, which is essential for normal cellular energy production. Mutations in the RNASEH1 gene can lead to Progressive External Ophthalmoplegia with Mitochondrial Deletions, Type 2, an autosomal recessive disorder. This condition is characterized by weakness in the muscles that control eye and eyelid movement, leading to drooping eyelids (ptosis) and difficulty moving the eyes, which can result in double vision. Additionally, affected individuals may experience muscle weakness in other parts of the body.
To diagnose this condition, a genetic test targeting the RNASEH1 gene can be performed. DNA Labs UAE offers this specialized genetic test, which is designed to identify mutations in the RNASEH1 gene that are associated with the development of Progressive External Ophthalmoplegia with Mitochondrial Deletions, Type 2. The test is crucial for confirming the diagnosis, understanding the disease's progression, and guiding treatment options.
The cost of the RNASEH1 gene genetic test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, usually through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of specific mutations in the RNASEH1 gene. This test is an important tool for individuals experiencing symptoms of Progressive External Ophthalmoplegia with Mitochondrial Deletions, Type 2, or for those with a family history of the condition, as it can provide a definitive diagnosis and facilitate appropriate management and genetic counseling.
