Lipodystrophy is a rare condition characterized by the abnormal distribution of fat in the body. Among its types, Generalized Lipodystrophy Type 2, also known as Berardinelli-Seip Congenital Lipodystrophy Type 2 (BSCL2), is particularly notable for its genetic roots. This condition is caused by mutations in the BSCL2 gene, leading to a wide range of symptoms […]
Metabolic Disorders
Symptoms and Testing information for CAVIN1 Gene Lipodystrophy Generalized Type 4 Genetic Test
Lipodystrophy is a rare disorder characterized by the abnormal distribution of body fat. Generalized Lipodystrophy Type 4, also known as CAVIN1 gene lipodystrophy, is a particularly rare form that affects individuals from an early age. DNA Labs UAE is at the forefront of diagnosing this condition through the CAVIN1 Gene Lipodystrophy Generalized Type 4 Genetic […]
Symptoms and Testing information for LMNA Gene Lipodystrophy Type 2 Familial Partial Genetic Test
Lipodystrophy Type 2, also known as Familial Partial Lipodystrophy (FPLD2), is a rare genetic disorder characterized by the abnormal distribution of fat in the body. This condition is specifically associated with mutations in the LMNA gene. Individuals with FPLD2 typically experience a loss of subcutaneous fat from the arms, legs, and trunk, which may lead […]
Symptoms and Testing information for PPARG Gene Lipodystrophy Familial Partial Type 3 Genetic Test
— Lipodystrophy is a rare disorder characterized by the abnormal distribution of fat in the body. Among its various types, Familial Partial Lipodystrophy (FPLD) is notable for its genetic basis, and within this category, the PPARG gene plays a critical role in the development of Type 3 Familial Partial Lipodystrophy (FPLD3). Understanding the symptoms and […]
Symptoms and Testing information for HADHA Gene Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Genetic Test
Symptoms of HADHA Gene Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency Genetic Test Understanding the genetic basis of metabolic disorders is crucial for early diagnosis and management. One such condition, Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, is a rare metabolic disorder affecting the body’s ability to oxidize fatty acids into energy. This condition is caused by mutations in the […]
Symptoms and Testing information for LPA Gene LPA Deficiency Congenital Genetic Test
In the realm of genetic diagnostics, understanding the intricacies of our genetic makeup has become increasingly accessible and informative, offering insights into conditions that were once shrouded in mystery. Among these conditions is the deficiency in the LPA gene, a concern that has garnered attention for its potential implications on health. DNA Labs UAE, a […]
Symptoms and Testing information for ABHD1 Gene Lung Alpha-beta Hydrolase Deficiency Type 1 Genetic Test
In the rapidly advancing field of genetic diagnostics, understanding the nuances of specific gene deficiencies is crucial for the early detection and management of inherited conditions. One such condition is the deficiency of the ABHD1 gene, which affects the lung’s alpha-beta hydrolase enzyme. This article aims to shed light on the symptoms associated with ABHD1 […]
Symptoms and Testing information for ACP2 Gene Lysosomal Acid Phosphatase Deficiency Genetic Test
Understanding ACP2 Gene Lysosomal Acid Phosphatase Deficiency Lysosomal acid phosphatase deficiency, linked to mutations in the ACP2 gene, is a rare genetic disorder that can lead to a variety of health issues. The ACP2 gene plays a crucial role in the body, encoding an enzyme necessary for breaking down certain molecules within the lysosomes. Lysosomes […]
Symptoms and Testing information for MLYCD Gene Malonyl-CoA Decarboxylase Deficiency Genetic Test
Malonyl-CoA decarboxylase deficiency (MLYCD) is a rare genetic disorder that disrupts the body’s ability to metabolize certain fats. This condition can lead to a variety of symptoms, which can range from mild to severe. Understanding these symptoms is crucial for early diagnosis and treatment. At DNA Labs UAE, we offer a comprehensive genetic test for […]
Symptoms and Testing information for CNNM2 Gene Hypomagnesemia Type 6 Genetic Test
Understanding the symptoms of CNNM2 gene hypomagnesemia type 6 is crucial for early diagnosis and effective management of this condition. Hypomagnesemia refers to lower than normal levels of magnesium in the blood, a vital mineral that plays a key role in numerous bodily functions, including muscle and nerve function, blood sugar control, and blood pressure […]