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 […]
Osteology Diseases
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 […]
Symptoms and Testing information for PHEX Gene Hypophosphatemic rickets X-linked Genetic Test
Hypophosphatemic rickets, specifically the X-linked form, is a rare genetic disorder that affects the bones, leading to abnormalities such as bowing of the legs, dental anomalies, and bone pain. This condition is primarily caused by mutations in the PHEX gene. Understanding the symptoms and genetic underpinnings of this disease is crucial for early diagnosis and […]
Symptoms and Testing information for ABCA12 Gene Ichthyosis congenital Harlequin fetus type Genetic Test
Ichthyosis congenital, specifically the Harlequin fetus type, is a rare and severe genetic disorder that affects the skin. It is primarily caused by mutations in the ABCA12 gene, which plays a crucial role in the development of the skin’s lipid barrier. This condition is characterized by thick, hard, and deeply cracked skin, resembling the costume […]
Symptoms and Testing information for DSC3 Gene Hypotrichosis and recurrent skin vesicles Genetic Test
— Hypotrichosis and recurrent skin vesicles are rare genetic conditions that have garnered attention in the medical community due to their unique symptoms and inheritance patterns. These conditions are often caused by mutations in the DSC3 gene. Understanding these conditions, their symptoms, and the availability of genetic testing is crucial for affected individuals and their […]
Symptoms and Testing information for MBTPS2 Gene Ichthyosis follicularis atricia and photophobia syndrome Genetic Test
Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic condition that affects the skin, hair, and eyes. The syndrome is caused by mutations in the MBTPS2 gene. Individuals with this condition often experience a range of symptoms that can significantly impact their quality of life. DNA Labs UAE offers a comprehensive genetic test […]