The PQBP1 Gene Renpenning Syndrome Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the PQBP1 gene, which are linked to Renpenning syndrome. Renpenning syndrome is a rare X-linked intellectual disability disorder that primarily affects males, characterized by developmental delays, microcephaly, short stature, and in some cases, physical deformities. The test, which costs 4400 AED, involves analyzing the patient's DNA to detect any genetic abnormalities in the PQBP1 gene, providing crucial information for accurate diagnosis and potential management plans for affected individuals and their families. This genetic test is a significant tool for clinicians and genetic counselors in understanding the genetic basis of the syndrome, facilitating early intervention and support for those diagnosed with this condition.
The MECP2 gene Rett Syndrome Preserved Speech Variant (PSV) genetic test is a specialized diagnostic tool designed to identify mutations in the MECP2 gene, which are linked to a rare form of Rett Syndrome where individuals retain the ability to speak. This variant of Rett Syndrome, while sharing many characteristics with classic Rett Syndrome, allows for some degree of verbal communication, making its identification crucial for tailored care and intervention strategies.
Performed at DNA Labs UAE, the test involves analyzing the patient's DNA to detect abnormalities in the MECP2 gene. These abnormalities can provide conclusive evidence of the PSV of Rett Syndrome, enabling healthcare providers to make accurate diagnoses. Early diagnosis is key to managing symptoms and improving the quality of life for those affected.
The cost of the MECP2 gene Rett Syndrome Preserved Speech Variant genetic test is 4400 AED. This investment covers the comprehensive analysis required to detect the specific gene mutations associated with this condition. Given the specialized nature of this test and its potential to significantly impact patient care, it represents a critical step for families seeking answers about this particular variant of Rett Syndrome.
The CLP1 Gene Pontocerebellar Hypoplasia Type 10 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the CLP1 gene, which are associated with Pontocerebellar Hypoplasia Type 10 (PCH10). PCH10 is a rare genetic disorder characterized by the underdevelopment of the cerebellum and pons, two critical regions of the brain that are involved in movement coordination and communication within the nervous system. Symptoms of PCH10 can include motor impairments, developmental delays, and in some cases, seizures.
This genetic test is crucial for early diagnosis and management of PCH10, allowing healthcare providers to tailor care plans that can improve the quality of life for affected individuals. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the lab for the presence of mutations in the CLP1 gene.
The cost of the CLP1 Gene Pontocerebellar Hypoplasia Type 10 Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis necessary to detect the specific genetic alterations linked to PCH10, providing families and physicians with essential information for making informed decisions about treatment and care.
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.
