The HSPG2 Gene Schwartz-Jampel Syndrome Type 1 Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the HSPG2 gene, which are associated with Schwartz-Jampel Syndrome Type 1 (SJS1). Schwartz-Jampel Syndrome is a rare genetic disorder characterized by muscle stiffness and abnormalities in bone development, leading to a distinctive facial appearance, among other symptoms. 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.
This genetic test involves analyzing the patient's DNA, extracted from a blood sample, to detect mutations in the HSPG2 gene that are indicative of SJS1. The identification of specific gene mutations can confirm a diagnosis, allowing for tailored management and treatment plans for the affected individuals. Moreover, the test can provide essential information for family planning and genetic counseling for families with a history of the syndrome.
The test is priced at 4400 AED and is conducted in the state-of-the-art facilities of DNA Labs UAE, ensuring high accuracy and reliability of the results. By opting for this test, individuals suspected of having Schwartz-Jampel Syndrome Type 1, or families with a known history of the condition, can gain valuable insights into their genetic status, aiding in the early detection and management of the syndrome.
The "TH Gene Segawa Syndrome Autosomal Recessive Genetic Test" is a specialized diagnostic examination offered by DNA Labs UAE, designed to detect mutations in the TH gene, which are responsible for Segawa syndrome. Segawa syndrome, also known as Dopa-responsive dystonia (DRD), is a rare genetic disorder characterized by dystonia, tremors, and progressive difficulty in walking. This condition is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
The test specifically targets the TH gene to identify any genetic abnormalities that may lead to the development of Segawa syndrome. Early diagnosis through this genetic testing is crucial for effective management of the syndrome, as it can significantly improve the quality of life of those affected through timely interventions, including pharmacological treatment.
DNA Labs UAE offers this comprehensive genetic test at a cost of 4400 AED. The test involves collecting a DNA sample from the patient, usually through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of mutations in the TH gene. The results from this test can provide valuable information for affected individuals and their families regarding the diagnosis, prognosis, and potential treatment options for Segawa syndrome, facilitating informed decisions about their health care.
The PRRT2 gene is associated with benign familial infantile seizures type 2, a condition characterized by early-onset seizures that typically manifest in infancy or early childhood. These seizures are usually brief and tend to resolve by the age of 2 to 4 years. The condition is inherited in an autosomal dominant manner, meaning a mutation in just one of the two copies of the gene can cause the disorder.
Genetic testing for mutations in the PRRT2 gene is crucial for accurate diagnosis and management of the condition. It helps in distinguishing benign familial infantile seizures from other types of epilepsy that may require different treatment approaches. Early and precise diagnosis can also provide valuable information for family planning and genetic counseling.
DNA Labs UAE offers a genetic test specifically designed to detect mutations in the PRRT2 gene. The test is conducted using a blood sample, and the process involves analyzing the genetic material to identify any alterations in the PRRT2 gene that are known to cause benign familial infantile seizures type 2.
The cost of the PRRT2 gene test at DNA Labs UAE is 4400 AED. This investment in genetic testing can be pivotal for families seeking answers to their child's seizure disorder, enabling them to access targeted treatment and support, and to understand the risk for future children or other family members.
The "KCNQ2 Gene Seizures Benign Neonatal Type 1 Genetic Test" is a specialized diagnostic examination conducted to identify mutations in the KCNQ2 gene, which are associated with benign neonatal seizures type 1 (BFNS1). This condition typically manifests within the first days to weeks of life, presenting as seizures that usually resolve by 12 months of age. The genetic basis of this disorder means that it can run in families, making genetic testing crucial for accurate diagnosis and family planning.
Performed at DNA Labs UAE, this test involves analyzing the patient's DNA to detect any abnormalities in the KCNQ2 gene that may lead to the development of benign neonatal seizures. The process is non-invasive, requiring only a sample of blood or saliva from the patient. The cost of the test is 4400 AED, reflecting the specialized nature of the examination and the comprehensive analysis it entails.
By confirming the presence of a KCNQ2 mutation, the test not only aids in diagnosing the condition but also helps in managing the patient's treatment plan more effectively. Additionally, it provides valuable information for family members who may be at risk of passing the mutation to future generations.
The ZFHX4 gene is implicated in a variety of genetic conditions, including congenital ptosis, a condition characterized by the drooping of the upper eyelid present at birth. This condition can affect one or both eyes and varies in severity. It can be purely cosmetic or significantly impair vision depending on the extent of the eyelid droop. The ZFHX4 gene plays a critical role in the development and function of muscles and nerves associated with eyelid movement.
To diagnose and understand the genetic basis of congenital ptosis, DNA Labs UAE offers a specialized genetic test targeting the ZFHX4 gene. This test is designed to identify mutations or alterations in the ZFHX4 gene that may contribute to the development of congenital ptosis. Understanding the genetic underpinnings of this condition can aid in prognosis, management, and treatment planning. It can also provide valuable information for genetic counseling, especially for families with a history of this condition.
The test cost is set at 4400 AED, reflecting the specialized nature of the genetic analysis and the comprehensive service provided by DNA Labs UAE. This includes the collection of a DNA sample, typically through a blood draw or cheek swab, the genetic sequencing or analysis to identify any mutations in the ZFHX4 gene, and a detailed report of the findings. The report may also offer guidance on potential treatment options and recommendations for further genetic counseling if necessary.
By opting for this genetic test, patients and their families can gain insight into the genetic basis of congenital ptosis, enabling informed decisions about their healthcare and future family planning.
The ALDH7A1 gene pyridoxine-dependent epilepsy genetic test is a specialized diagnostic tool used to identify mutations in the ALDH7A1 gene, which are associated with pyridoxine-dependent epilepsy (PDE). PDE is a rare, genetic disorder characterized by seizures that are not controllable with usual antiepileptic drugs but can be effectively managed with daily doses of pyridoxine (vitamin B6). Early diagnosis and treatment are crucial to prevent neurological damage and improve patient outcomes.
This genetic test is conducted by extracting DNA from a blood sample and analyzing the ALDH7A1 gene for specific mutations known to cause PDE. The process involves sophisticated laboratory techniques to ensure accurate detection of genetic abnormalities.
The cost of the ALDH7A1 gene pyridoxine-dependent epilepsy genetic test is 4400 AED. The test is available at DNA Labs UAE, a reputable laboratory known for its advanced genetic testing services. DNA Labs UAE employs state-of-the-art technology and adheres to stringent quality control measures to provide reliable and precise test results, making it a trusted choice for patients and healthcare providers seeking genetic testing for pyridoxine-dependent epilepsy.
The PC Gene Pyruvate Carboxylase Deficiency Genetic Test is a specialized diagnostic examination offered by DNA Labs UAE, designed to detect mutations in the PC gene, which are responsible for pyruvate carboxylase deficiency. This condition is a rare metabolic disorder that disrupts the normal processing of carbohydrates and amino acids, leading to a buildup of lactic acid in the body and a range of associated health issues, including developmental delay and neurological problems. The test is critical for early diagnosis and management of the condition, allowing for tailored treatments that can significantly improve the quality of life for affected individuals. The cost of the test is set at 4400 AED, reflecting the comprehensive analysis and expertise required to accurately identify the genetic mutations associated with this disorder.
The "CLCN4 Gene Raynaud-Claes Syndrome Genetic Test" is a specialized diagnostic procedure aimed at detecting mutations in the CLCN4 gene, which have been linked to Raynaud-Claes Syndrome. This condition is a rare genetic disorder that can affect various systems in the body, leading to symptoms such as developmental delays, neurological issues, and sometimes physical deformities. The test is conducted through a detailed analysis of the patient's DNA, specifically targeting the CLCN4 gene to identify any abnormalities or mutations that might be responsible for the syndrome.
Performed at DNA Labs UAE, a leading facility in genetic testing and analysis, this test offers families and individuals the chance to understand their genetic makeup concerning Raynaud-Claes Syndrome, allowing for informed medical and personal decisions. The cost of the test is set at 4400 AED, reflecting the comprehensive nature of the analysis and the specialized expertise required to interpret the results. By opting for this test, patients and their healthcare providers can gain valuable insights into the genetic underpinnings of the condition, facilitating targeted interventions and management strategies to improve the quality of life for those affected.
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.
