The FKTN gene limb-girdle muscular dystrophy autosomal recessive type 2M genetic test is a specialized diagnostic examination aimed at detecting mutations in the FKTN gene, which are responsible for causing limb-girdle muscular dystrophy type 2M (LGMD2M). This condition is a form of muscular dystrophy that affects the voluntary muscles around the hips and shoulders (the limb-girdle muscles), leading to muscle weakness and wasting. As an autosomal recessive disorder, LGMD2M requires two copies of the defective gene—one from each parent—for a person to be affected.
DNA Labs UAE offers this genetic test as a critical tool for confirming the diagnosis of LGMD2M, enabling healthcare professionals to tailor treatment and management plans according to the specific needs of the patient. The test involves analyzing the patient's DNA to identify mutations in the FKTN gene, which provides instructions for making a protein involved in maintaining muscle cell structure and function.
The cost of the FKTN gene limb-girdle muscular dystrophy autosomal recessive type 2M genetic test at DNA Labs UAE is 4400 AED. By conducting this test, families affected by LGMD2M can also receive genetic counseling to understand the implications of the results, the risk of passing the condition to future generations, and the options available for family planning.
The POMT1 gene plays a crucial role in the development and maintenance of muscle tissue. Mutations in this gene can lead to a specific form of limb-girdle muscular dystrophy, classified as autosomal recessive type 2N (LGMDR2, formerly LGMD2N). This condition is characterized by progressive weakness and wasting of the limb-girdle muscles, which are the muscles around the shoulders and hips. Symptoms typically begin in childhood or adolescence and can vary widely in severity.
To diagnose this condition and differentiate it from other forms of muscular dystrophy, genetic testing is essential. DNA Labs UAE offers a specialized test targeting the POMT1 gene to identify mutations associated with LGMDR2. The test involves analyzing the patient's DNA, extracted from a blood sample, to look for specific genetic alterations in the POMT1 gene that are known to cause the disease.
The cost of the POMT1 gene limb-girdle muscular dystrophy autosomal recessive type 2N genetic test at DNA Labs UAE is 4400 AED. This test is a crucial step in confirming the diagnosis, which can help in managing the condition more effectively through personalized treatment plans and genetic counseling for affected families. It also provides valuable information for understanding the prognosis and potential participation in clinical trials or therapies targeting the underlying genetic cause.
The TRAPPC11 gene plays a crucial role in the development and maintenance of muscle function. Mutations in this gene are associated with limb-girdle muscular dystrophy autosomal recessive type 2S (LGMDR2S), a condition characterized by progressive weakness and wasting of the limb-girdle muscles, which are those muscles around the hips and shoulders. This form of muscular dystrophy affects individuals from a young age, leading to difficulties in walking, climbing stairs, and performing tasks that require arm strength.
To diagnose LGMDR2S, genetic testing is essential. DNA Labs UAE offers a specialized genetic test targeting the TRAPPC11 gene to confirm the diagnosis of limb-girdle muscular dystrophy autosomal recessive type 2S. The test is designed to detect mutations in the TRAPPC11 gene that are known to cause the condition. Early diagnosis through genetic testing is crucial for managing symptoms, planning treatment strategies, and providing genetic counseling to affected families.
The cost of the TRAPPC11 gene test at DNA Labs UAE is 4400 AED. This test is a valuable tool for individuals experiencing symptoms of limb-girdle muscular dystrophy, as well as for family members who may be carriers of the genetic mutation. By identifying the specific mutation, healthcare providers can offer more personalized care and support to patients and their families.
The NDE1 Gene Lissencephaly type 4 with microcephaly Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the NDE1 gene, which are linked to Lissencephaly type 4 with microcephaly. This condition is characterized by a smooth brain surface and reduced brain size, leading to significant developmental delays and neurological issues. The test involves analyzing the patient's DNA to detect any genetic abnormalities that may indicate the presence of this rare disorder. Performed at DNA Labs UAE, a leading facility in genetic testing, the test is priced at 4400 AED. This test is crucial for early diagnosis and management of the condition, offering families vital information for planning medical care and support.
The "DCX Gene Lissencephaly/Subcortical Band Heterotopia (SBH) X-linked Genetic Test" is a specialized diagnostic tool used to identify mutations in the DCX gene, which are linked to neurodevelopmental disorders such as Lissencephaly and Subcortical Band Heterotopia (SBH). These conditions are characterized by abnormal brain formation, leading to smooth brain surfaces (lissencephaly) or irregular bands of gray matter (SBH), which can result in severe intellectual disability, developmental delay, seizures, and motor impairment. Given the X-linked inheritance pattern, males are typically more severely affected, while females may have milder symptoms.
This genetic test, offered by DNA Labs UAE for a cost of 4400 AED, involves analyzing the patient's DNA to detect mutations in the DCX gene that are responsible for these conditions. The test is crucial for accurate diagnosis, understanding the risk of recurrence in families, and guiding clinical management. It is performed in a state-of-the-art laboratory setting, ensuring high-quality, reliable results for affected families seeking answers and support for these challenging conditions.
The OCRL Gene Lowe oculocerebrorenal syndrome Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the OCRL gene, which are associated with Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder characterized by eye abnormalities, brain abnormalities, and kidney problems. This condition primarily affects males and can lead to a range of symptoms including cataracts, muscle weakness, intellectual disability, and renal impairment.
DNA Labs UAE provides this genetic testing service for individuals who may be at risk of having Lowe syndrome, or for families looking to understand their genetic health background. By analyzing the OCRL gene, this test can confirm a diagnosis of Lowe syndrome, assist in the management of the condition, and provide crucial information for family planning.
The cost of the OCRL Gene Lowe oculocerebrorenal syndrome Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the detailed analysis required to detect any mutations in the OCRL gene. Given the complexity of genetic testing and the specific expertise required to interpret the results, this test is a critical tool in the diagnosis and management of Lowe syndrome, offering patients and their families the information needed to navigate the condition with greater understanding and preparedness.
The XBP1 Gene Major Affective Disorder 7 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to detect genetic variations in the XBP1 gene that are associated with an increased risk of developing major affective disorders, including major depression and bipolar disorder. This test is particularly valuable for individuals with a family history of these conditions or those experiencing symptoms, as it can provide critical insights into their genetic predisposition. The process involves a simple DNA sample collection, typically through a blood draw or cheek swab, which is then analyzed for specific genetic markers linked to affective disorders.
The cost of the XBP1 Gene Major Affective Disorder 7 Genetic Test at DNA Labs UAE is 4400 AED. This investment in personal health allows individuals to gain a deeper understanding of their genetic makeup and its potential impact on their mental health. The results from this test can guide healthcare providers in developing more personalized and effective treatment plans, taking into account the genetic factors that may influence the course of the disorder. Additionally, it empowers individuals with actionable insights to make informed decisions about their mental health management and preventive strategies.
The CACNA1S gene is associated with a condition known as malignant hyperthermia type 5, a rare but severe reaction to certain anesthesia drugs, leading to a rapid increase in heart rate and body temperature, muscle rigidity, and other symptoms. This condition is genetic, meaning it is passed down through families.
To diagnose this condition and identify individuals at risk, a genetic test targeting the CACNA1S gene can be conducted. This test is crucial for people with a family history of malignant hyperthermia or those who have experienced symptoms of the condition during surgery. Early identification can help manage the risk and prepare safer anesthesia protocols for affected individuals.
In the United Arab Emirates, this specific genetic test is available at DNA Labs UAE, a facility known for its advanced genetic testing services. The cost of the CACNA1S gene test for malignant hyperthermia type 5 at DNA Labs UAE is 4400 AED. This test is a valuable tool for individuals and healthcare providers to manage and mitigate the risks associated with malignant hyperthermia, ensuring safer surgical outcomes for those with the genetic predisposition.
TUBB4A Gene Leukodystrophy, Hypomyelinating Type 6, is a rare genetic disorder characterized by abnormalities in the development and maintenance of the myelin sheath, the protective covering of nerve cells. This condition leads to a range of neurological symptoms, including muscle stiffness, movement disorders, and developmental delays. The TUBB4A gene plays a crucial role in the proper formation of microtubules, essential components for cell structure and function, including in the nervous system.
To diagnose this condition, a genetic test targeting the TUBB4A gene can be conducted. DNA Labs UAE offers this specialized genetic test, designed to detect mutations in the TUBB4A gene that are responsible for Hypomyelinating Leukodystrophy Type 6. The test is a critical step for accurate diagnosis, allowing for a better understanding of the condition and facilitating tailored management and treatment plans for affected individuals.
The cost of the TUBB4A Gene Leukodystrophy hypomyelinating type 6 Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect the specific genetic alterations within the TUBB4A gene, providing essential information for affected families and their healthcare providers. By confirming a diagnosis through genetic testing, families can gain insights into the condition, its progression, and potential interventions to improve quality of life.
The POLR3A Gene Leukodystrophy Hypomyelinating Type 7 Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the POLR3A gene, which are associated with Hypomyelinating Leukodystrophy Type 7 (HLD7). This condition is a rare genetic disorder characterized by the underdevelopment of the white matter in the brain, leading to a range of neurological symptoms such as delayed development, muscle stiffness, and difficulty coordinating movements. The test, priced at 4400 AED, involves analyzing the patient's DNA to detect abnormalities in the POLR3A gene, providing crucial information for accurate diagnosis and potential treatment options. By identifying the genetic basis of the condition, healthcare providers can offer more personalized care plans and support for affected individuals and their families.
