In the realm of genetic testing and diagnostics, the BCS1L gene GRACILE syndrome genetic test stands out as a pivotal assessment for identifying a rare but serious genetic disorder. GRACILE syndrome, an acronym for Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death, is caused by mutations in the BCS1L gene. This article aims to elucidate the symptoms associated with GRACILE syndrome and provide comprehensive details on the genetic testing available at DNA Labs UAE, including the cost of the test, which is 4400 AED.
Symptoms of GRACILE Syndrome
GRACILE syndrome is a condition that manifests right from birth, presenting a series of clinical symptoms that are critical for early diagnosis and management. The most notable symptoms include:
- Growth Retardation: Infants with GRACILE syndrome often exhibit significantly reduced growth rates, both in terms of weight and length, from birth.
- Aminoaciduria: An abnormal presence of amino acids in the urine is a hallmark of this condition, indicating a malfunction in the kidneys’ reabsorption capacity.
- Cholestasis: This refers to the impairment of bile flow from the liver, leading to jaundice (a yellowing of the skin and eyes), itching, and other liver-related issues.
- Iron Overload: Despite the presence of liver disease, individuals with GRACILE syndrome may exhibit abnormal iron accumulation, which can further damage organs.
- Lactic Acidosis: Elevated levels of lactic acid in the blood, a byproduct of energy metabolism, indicate that the body’s cells aren’t receiving enough oxygen.
- Early Death: Unfortunately, due to the severe nature of the symptoms and complications associated with GRACILE syndrome, many affected infants face a significantly shortened lifespan.
Understanding the BCS1L Gene GRACILE Syndrome Genetic Test
The BCS1L gene GRACILE syndrome genetic test is a specialized diagnostic tool designed to detect mutations in the BCS1L gene, which are responsible for the development of GRACILE syndrome. This test is crucial for early diagnosis, allowing for prompt intervention and supportive care to manage symptoms and improve quality of life. The test involves a simple blood sample from the patient, which is then analyzed using advanced genetic sequencing technologies to identify the specific mutation(s) in the BCS1L gene.
Test Cost and Availability at DNA Labs UAE
At DNA Labs UAE, we are committed to providing accessible and high-quality genetic testing services. The cost of the BCS1L gene GRACILE syndrome genetic test is 4400 AED. Our state-of-the-art laboratory is equipped with the latest in genetic testing technology, ensuring accurate and reliable results. For more information on the test and to schedule an appointment, please visit our website at https://dnalabsuae.com/tests/bcs1l-gene-gracile-syndrome-genetic-test/.
Conclusion
GRACILE syndrome is a severe genetic condition that requires early diagnosis for effective management of symptoms. The BCS1L gene GRACILE syndrome genetic test available at DNA Labs UAE is a crucial tool in the diagnosis and understanding of this condition. With a comprehensive approach to genetic testing and a commitment to patient care, DNA Labs UAE strives to provide the necessary support for families affected by GRACILE syndrome, helping pave the way for a better understanding and management of this rare genetic disorder.
