Ichthyosis congenital autosomal recessive type 2, also known as ARCI2, is a rare genetic skin disorder caused by mutations in the ALOX12B gene. This condition is characterized by the appearance of scaly skin shortly after birth. The scales are usually large, dark, and plate-like, covering most parts of the body. It is a condition that […]
Osteology Diseases
Symptoms and Testing information for CERS3 Gene Ichthyosis congenital autosomal recessive type 9 Genetic Test
Ichthyosis congenital autosomal recessive type 9, caused by mutations in the CERS3 gene, is a rare genetic disorder that significantly impacts the skin. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing crucial information for affected individuals and their families. The test, priced at 4400 AED, is a vital tool […]
Symptoms and Testing information for ABCA12 Gene Ichthyosis lamellar type 2 Genetic Test
Ichthyosis lamellar type 2, also known as Harlequin ichthyosis, is a severe genetic disorder that affects the skin. This condition is caused by mutations in the ABCA12 gene, which plays a crucial role in the development of the lipid barrier of the skin. Individuals with this condition are born with very hard, thick skin covering […]
Symptoms and Testing information for CYP4F22 Gene Ichthyosis lamellar type 3 Genetic Test
Ichthyosis lamellar type 3 is a rare genetic condition that significantly impacts the skin, causing it to become dry, scaly, and thickened. This 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. The CYP4F22 gene has been […]
Symptoms and Testing information for LPAR6 Gene Hypotrichosis type 8 Genetic Test
Symptoms of LPAR6 Gene Hypotrichosis type 8 Genetic Test Hypotrichosis type 8 is a rare genetic condition characterized by a significant reduction in the amount of hair on the scalp and body. This condition is caused by mutations in the LPAR6 gene, which plays a crucial role in hair follicle development and maintenance. Understanding the […]
Symptoms and Testing information for SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and management. One such condition, SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome, is a rare genetic disorder that impacts various body systems. It is characterized by a trio of primary symptoms: sparse hair (hypotrichosis), swelling caused by fluid accumulation (lymphedema), and small, dilated blood vessels near the […]
Symptoms and Testing information for ALOXE3 Gene Ichthyosiform erythroderma congenital nonbullous type 1 Genetic Test
At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help individuals and families understand their genetic health. One of the specialized tests we offer is for the ALOXE3 gene, associated with Ichthyosiform Erythroderma Congenital Nonbullous Type 1 (IEC). This rare genetic condition can significantly impact the quality of life of […]
Symptoms and Testing information for NIPAL4 Gene Ichthyosiform erythroderma congenital nonbullous type 1 Genetic Test
Understanding the complexities of genetic conditions is crucial for early diagnosis and effective management. One such condition is Ichthyosiform erythroderma congenital nonbullous type 1, caused by mutations in the NIPAL4 gene. This rare genetic disorder can lead to significant dermatological manifestations from birth or early childhood. At DNA Labs UAE, we provide comprehensive genetic testing […]
Symptoms and Testing information for ENPP1 Gene Hypophosphatemic rickets autosomal recessive type 2 Genetic Test
Hypophosphatemic rickets, particularly the autosomal recessive type 2, is a rare but significant condition that impacts the bones, leading to their softening and weakening. This condition is primarily caused by mutations in the ENPP1 gene. Understanding the symptoms and genetic underpinnings of this condition is crucial for timely diagnosis and management. DNA Labs UAE offers […]
Symptoms and Testing information for PNPLA1 Gene Ichthyosis congenital autosomal recessive PNPLA1 related Genetic Test
Ichthyosis congenital autosomal recessive PNPLA1 related is a rare genetic condition that significantly affects the skin. Individuals with this condition have a mutation in the PNPLA1 gene, which plays a crucial role in the development and maintenance of healthy skin. This article delves into the symptoms of this genetic disorder and provides detailed information about […]