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PYGM Gene Glycogen storage disease type 5 Genetic Test Cost
The PYGM gene glycogen storage disease type 5, also known as McArdle's disease, is a rare genetic disorder that affects muscle function. This condition is caused by mutations in the PYGM gene, which is responsible for producing myophosphorylase, an enzyme essential for breaking down glycogen in muscle cells. Without sufficient levels of this enzyme, individuals with McArdle's disease experience muscle weakness, cramps, and fatigue, particularly during exercise. To diagnose this condition, a genetic test can be conducted to identify mutations in the PYGM gene. DNA Labs UAE offers this specific genetic test, providing a comprehensive analysis to detect the presence of the mutations associated with glycogen storage disease type 5. The test is priced at 4400 AED and involves collecting a DNA sample from the patient, typically through a blood draw or cheek swab. The sample is then analyzed in the laboratory to determine if the PYGM gene mutations are present, aiding in the diagnosis of McArdle's disease. This genetic test is crucial for individuals experiencing symptoms of McArdle's disease or those with a family history of the condition, as it provides definitive diagnosis and can guide treatment and management strategies. Early diagnosis can also help in preventing potential complications and improving the quality of life for those affected by this rare genetic disorder.
PYGL Gene Glycogen storage disease type 6B Genetic Test Cost
Glycogen storage disease type 6B, caused by mutations in the PYGL gene, is a genetic disorder that affects the body's ability to break down glycogen, a stored form of glucose. This can lead to various symptoms, including low blood sugar levels, muscle weakness, and growth abnormalities. The PYGL gene plays a crucial role in the glycogenolysis pathway, and mutations in this gene disrupt the normal breakdown of glycogen, leading to its accumulation in the liver and muscles. To diagnose this condition, a genetic test targeting the PYGL gene can be performed. DNA Labs UAE offers this specific genetic testing service to identify mutations in the PYGL gene, providing crucial information for the diagnosis, management, and understanding of glycogen storage disease type 6B. The test is priced at 4400 AED and involves collecting a DNA sample from the patient, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to detect any genetic abnormalities associated with the condition. This genetic test is a valuable tool for families with a history of glycogen storage disease type 6B, individuals exhibiting symptoms of the disorder, or those who carry a risk of passing the condition to their offspring. By confirming the presence of mutations in the PYGL gene, healthcare providers can offer appropriate genetic counseling, devise a tailored management plan to mitigate symptoms, and inform patients about the implications for family planning.
PHKB Gene Glycogen Storage Disease Type 9B Genetic Test Cost
The PHKB gene is associated with a condition known as Glycogen Storage Disease Type 9B (GSD 9B), a metabolic disorder that affects the body's ability to store and utilize glycogen, a form of sugar used for energy. GSD 9B is a rare genetic condition that can lead to various symptoms, including muscle weakness, growth delay, and liver enlargement. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. To diagnose GSD 9B, a genetic test focusing on the PHKB gene can be performed. This test identifies mutations in the PHKB gene that are responsible for the condition. DNA Labs UAE offers this specific genetic testing service, providing a crucial diagnostic tool for families suspecting GSD 9B or for those with a known family history of the condition. The cost of the PHKB Gene Glycogen Storage Disease Type 9B Genetic Test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of specific genetic mutations in the PHKB gene. Results from this test can help guide treatment decisions, inform family planning, and provide valuable information on the prognosis of the condition. It's important for individuals considering this test to consult with a healthcare provider or a genetic counselor to understand the implications of the results and to receive personalized advice based on their specific situation.
NNT Gene Glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency Genetic Test Cost
The NNT Gene Glucocorticoid Deficiency Type 4 with or without Mineralocorticoid Deficiency Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to detect mutations in the NNT gene. These mutations are associated with Glucocorticoid Deficiency Type 4, a rare endocrine disorder that impairs the adrenal glands' ability to produce cortisol, a crucial hormone for stress response, metabolism, and immune function. In some cases, the disorder may also affect the production of mineralocorticoids, which help regulate sodium and potassium levels in the body. This genetic test is critical for early diagnosis and management of the condition, allowing for appropriate treatment strategies to be implemented, which may include hormone replacement therapy. The test is priced at 4400 AED and involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of specific mutations in the NNT gene. Results from this test can provide valuable information for affected individuals and their families regarding the prognosis, potential complications, and the likelihood of passing the condition on to future generations.
SLC5A1 Gene GlucoseGalactose malabsorption Genetic Test Cost
The SLC5A1 gene glucose-galactose malabsorption genetic test is a specialized diagnostic procedure designed to identify mutations in the SLC5A1 gene, which are responsible for glucose-galactose malabsorption (GGM). GGM is a rare genetic disorder that affects the body's ability to absorb glucose and galactose, two important sugars, from the intestines. This condition can lead to severe dehydration, malnutrition, and failure to thrive if not diagnosed and managed properly. The test involves analyzing the DNA to look for specific mutations in the SLC5A1 gene that are known to cause the disorder. It is a critical tool for confirming a suspected diagnosis of GGM, based on clinical symptoms and dietary response, and can also be used for carrier testing in families with a history of the condition. Conducted at DNA Labs UAE, a leading genetic testing facility, the cost of the SLC5A1 gene glucose-galactose malabsorption genetic test is set at 4400 AED. The lab utilizes advanced genetic sequencing technologies to ensure accurate and reliable results, providing essential information for the management and treatment of affected individuals. This test is a vital resource for families and healthcare providers dealing with the challenges of glucose-galactose malabsorption, offering hope for better health outcomes through early and precise diagnosis.
FTCD Gene Glutamate formiminotransferase deficiency Genetic Test Cost
The FTCD Gene Glutamate Formiminotransferase Deficiency Genetic Test is a specialized diagnostic procedure aimed at detecting mutations in the FTCD gene. This gene is crucial for the proper metabolism of amino acids, specifically in the process involving formiminotransferase and cyclodeaminase activities, which are essential for the conversion of formiminoglutamate (FIGLU) into glutamate. Mutations in the FTCD gene can lead to a rare metabolic disorder known as Glutamate Formiminotransferase Deficiency. This condition can result in a variety of symptoms ranging from mild to severe, including developmental delays, intellectual disabilities, and metabolic anomalies. The test is conducted at DNA Labs UAE, a reputable genetic testing facility known for its advanced diagnostic technologies and expert staff. The cost of the test is 4400 AED, reflecting the comprehensive nature of the analysis and the specialized expertise required to interpret the results accurately. By identifying specific genetic mutations associated with the disorder, the test can provide essential information for the diagnosis, management, and treatment planning for affected individuals. This genetic test is a critical tool for families seeking answers to unexplained symptoms related to amino acid metabolism disorders and is a step forward in personalized medicine.
GLUL Gene Glutamine deficiency congenital Genetic Test Cost
The "GLUL Gene Glutamine Deficiency Congenital Genetic Test" is a specialized diagnostic procedure offered by DNA Labs UAE, designed to detect mutations in the GLUL gene, which can lead to congenital glutamine deficiency. This condition is rare and affects the body's ability to synthesize glutamine, an amino acid essential for various bodily functions, including immune system support, gut health, and brain function. Early detection through this genetic test can be crucial for managing symptoms and improving the quality of life for affected individuals. The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the lab for any genetic abnormalities associated with this condition. The cost of the test is 4400 AED, reflecting the specialized analysis and detailed genetic counseling that accompanies the testing process. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experts in genetics, ensuring accurate and reliable results for those undergoing testing.
GCDH Gene Glutaric acidemia type 1 Genetic Test Cost
The GCDH Gene Glutaric Acidemia Type 1 Genetic Test is a specialized diagnostic procedure designed to identify mutations in the GCDH gene, which are responsible for glutaric acidemia type 1 (GA-1). GA-1 is an inherited metabolic disorder characterized by the body's inability to properly process certain amino acids, leading to the accumulation of harmful substances and potentially severe neurological damage if not treated early. This genetic test is a critical tool for early detection and management of the condition, allowing for timely intervention and counseling for affected families. Performed at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves collecting a DNA sample, usually through a blood draw or cheek swab, and analyzing it for specific mutations in the GCDH gene. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify the mutations associated with glutaric acidemia type 1. By opting for this test, individuals at risk of carrying or passing on this genetic condition can gain valuable insights into their genetic health, enabling informed decisions about family planning and management strategies for affected family members.
