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PNPO Gene Pyridoxamine 5′-Phosphate Oxidase Deficiency Genetic Test Cost
The PNPO gene pyridoxamine 5'-phosphate oxidase deficiency genetic test is a specialized diagnostic procedure aimed at identifying mutations in the PNPO gene, which can lead to a rare metabolic disorder known as PNPO deficiency. This condition disrupts the body's ability to properly metabolize vitamin B6, leading to potentially severe neurological symptoms, including seizures, that typically manifest shortly after birth. Early diagnosis through genetic testing is crucial for the effective management and treatment of this disorder, often involving vitamin B6 supplementation. The test is available at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. The cost of the test is set at 4400 AED, reflecting the specialized nature of the analysis and the comprehensive insights it provides. By identifying specific genetic mutations associated with PNPO deficiency, the test enables healthcare providers to tailor treatments to the needs of individual patients, significantly improving outcomes for those affected by this rare condition.
PC Gene Pyruvate Carboxylase Deficiency Genetic Test Cost
PC Gene Pyruvate Carboxylase Deficiency Genetic Test at DNA Labs UAE The PC Gene Pyruvate Carboxylase Deficiency Genetic Test is a specialized diagnostic assessment offered by DNA Labs UAE, designed to detect mutations in the PC gene, which are indicative of Pyruvate Carboxylase Deficiency (PCD). PCD is a rare metabolic disorder that impairs the body's ability to convert carbohydrates and proteins into energy, leading to a buildup of lactic acid and a range of severe neurological symptoms. Early diagnosis through genetic testing can be crucial for managing symptoms and improving the quality of life for affected individuals. This test is meticulously conducted in the state-of-the-art facilities of DNA Labs UAE, ensuring high accuracy and reliability of results. The cost of the test is set at 4400 AED, reflecting the comprehensive nature of the analysis and the expertise involved in interpreting the genetic data. By opting for this genetic test, patients and their families can gain valuable insights into their genetic makeup, empowering them with the knowledge to make informed decisions about their health and treatment options.
PDHA1 Gene Pyruvate Dehydrogenase E1-Alpha Deficiency Genetic Test Cost
The PDHA1 gene encodes the E1 alpha subunit of the pyruvate dehydrogenase (PDH) complex, a critical enzyme system for energy production that converts pyruvate into acetyl-CoA, a key step in the cellular metabolic pathway. Mutations in the PDHA1 gene can lead to Pyruvate Dehydrogenase E1-Alpha Deficiency, a rare genetic disorder that disrupts normal cellular energy production, leading to a range of symptoms from mild to severe, including neurological and developmental disorders. To diagnose this genetic condition, a specific genetic test is available that examines the PDHA1 gene for mutations. This test is crucial for accurate diagnosis and management of the condition, enabling healthcare providers to tailor treatments and interventions to the individual needs of the patient. In the UAE, DNA Labs UAE offers this specialized genetic test. The cost of the PDHA1 Gene Pyruvate Dehydrogenase E1-Alpha Deficiency Genetic Test is 4400 AED. Conducting this test at DNA Labs UAE ensures that patients receive a precise diagnosis through state-of-the-art genetic testing technologies, guided by a team of experts in genetic diagnostics. This facilitates early intervention and management strategies, potentially improving the quality of life for those affected by this deficiency.
DLAT Gene Pyruvate Dehydrogenase E2 Deficiency Genetic Test Cost
The DLAT Gene Pyruvate Dehydrogenase E2 Deficiency Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE. This test is designed to identify mutations in the DLAT gene, which plays a crucial role in the function of the pyruvate dehydrogenase complex. This complex is essential for converting pyruvate into acetyl-CoA, a critical step in the cellular energy production pathway. Deficiencies in the E2 component of the complex, due to mutations in the DLAT gene, can lead to a range of metabolic disorders that may affect neurological function and physical development. Given the complexity and specificity of this test, it is priced at 4400 AED. The procedure involves collecting a DNA sample from the patient, typically through a blood draw or a cheek swab. This sample is then analyzed in the state-of-the-art facilities at DNA Labs UAE, utilizing advanced genetic sequencing technologies to identify any mutations in the DLAT gene. The results from this test can provide essential information for diagnosing related metabolic disorders, guiding treatment plans, and offering insight into the genetic risk for family members. It's important for patients considering this test to consult with a healthcare professional or genetic counselor to understand the implications of the results and the potential next steps in management or treatment.
PSAT1 Gene Phosphoserine Aminotransferase Deficiency Genetic Test Cost
The PSAT1 gene plays a crucial role in the biosynthesis of serine, an amino acid important for various physiological processes. A deficiency in the enzyme phosphoserine aminotransferase, encoded by the PSAT1 gene, can lead to neurological and developmental issues. This condition, known as phosphoserine aminotransferase deficiency, is a rare genetic disorder that can be diagnosed through genetic testing. DNA Labs UAE offers a specialized genetic test to identify mutations in the PSAT1 gene, which can confirm a diagnosis of phosphoserine aminotransferase deficiency. This test is crucial for families seeking answers to unexplained neurological symptoms in their children or for individuals with a family history of the condition. The cost of the PSAT1 gene phosphoserine aminotransferase deficiency genetic test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, usually through a blood draw or cheek swab, and analyzing it for specific mutations in the PSAT1 gene. Results from this test can provide valuable information for diagnosis, treatment planning, and genetic counseling for affected families.
HMBS Gene Porphyria Acute Intermittent Genetic Test Cost
The HMBS Gene Porphyria Acute Intermittent Genetic Test is a specialized diagnostic tool designed to identify mutations in the hydroxymethylbilane synthase (HMBS) gene, which are responsible for Acute Intermittent Porphyria (AIP). AIP is a rare metabolic disorder that affects the production of heme, an essential component of hemoglobin. Individuals with AIP can experience a range of symptoms, including severe abdominal pain, neuropathy, and psychological symptoms, often triggered by certain drugs, diet, or stress factors. The test involves analyzing the patient's DNA to detect any genetic alterations in the HMBS gene, providing crucial information for accurate diagnosis, management, and genetic counseling. Early and precise identification of the condition is vital for preventing acute attacks, managing symptoms, and improving the quality of life for affected individuals. Performed at DNA Labs UAE, the test is available for a cost of 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by professionals experienced in genetic diagnostics, ensuring reliable and accurate test results. This test is particularly recommended for individuals with a family history of AIP or those exhibiting symptoms suggestive of the disorder.
HYAL1 Gene Mucopolysaccharidosis Type 9 Genetic Test Cost
The HYAL1 gene mucopolysaccharidosis type 9 genetic test is a specialized diagnostic tool used to identify mutations in the HYAL1 gene, which are associated with mucopolysaccharidosis type 9 (MPS IX), a rare lysosomal storage disorder. This condition is characterized by a deficiency in the enzyme hyaluronidase, leading to the accumulation of glycosaminoglycans in the body and causing various symptoms such as short stature, joint abnormalities, and soft tissue masses. The test is crucial for early diagnosis, which can significantly impact the management and treatment options for affected individuals. Conducted at DNA Labs UAE, a leading genetic testing facility known for its advanced diagnostic technology and expert staff, the test ensures high accuracy and reliability. The cost of the HYAL1 gene mucopolysaccharidosis type 9 genetic test is 4400 AED, reflecting the intricate processes and specialized equipment involved in identifying the specific genetic mutations. By opting for this test at DNA Labs UAE, patients and their families can gain valuable insights into the genetic basis of MPS IX, facilitating informed decisions about their healthcare and enabling access to targeted therapies and supportive care.
AMPD1 Gene Myopathy Due to Myoadenylate Deaminase Deficiency Genetic Test Cost
The AMPD1 gene is responsible for encoding an enzyme called myoadenylate deaminase, which plays a crucial role in muscle energy metabolism. A deficiency in this enzyme, due to mutations in the AMPD1 gene, leads to a condition known as myoadenylate deaminase deficiency (MADD). This condition can cause a range of symptoms, including muscle pain, cramps, and exercise intolerance. To diagnose this genetic condition, a specific test is available that analyzes the AMPD1 gene for mutations known to cause myoadenylate deaminase deficiency. This test is particularly valuable for individuals experiencing unexplained muscle symptoms, as it can confirm a diagnosis of MADD, allowing for appropriate management and treatment strategies to be implemented. In the United Arab Emirates, DNA Labs UAE offers this genetic test for the detection of AMPD1 gene mutations associated with myoadenylate deaminase deficiency. The test cost is 4400 AED, which reflects the specialized nature of the genetic analysis and the comprehensive insight it provides into the individual's condition. By opting for this test at DNA Labs UAE, patients and healthcare providers can gain crucial information for the effective management of symptoms associated with myoadenylate deaminase deficiency.
