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Symptoms and Testing information for PIGL Gene CHIME Syndrome Genetic Test

— Understanding CHIME Syndrome CHIME syndrome is a rare genetic disorder caused by mutations in the PIGL gene. It is characterized by a constellation of symptoms that significantly impact the affected individuals. The name CHIME is an acronym that stands for Coloboma of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation (now more appropriately termed

Symptoms and Testing information for MAMLD1 Gene Hypospadias type 2 X-linked Genetic Test

Hypospadias is a birth defect in males where the opening of the urethra is not located at the tip of the penis. Instead, it is found on the underside, which can vary from just below the tip to the base of the penile shaft, or even in the scrotum. This condition is one of the

Symptoms and Testing information for CLCN5 Gene Hypophosphatemic Rickets Genetic Test

Hypophosphatemic rickets is a rare genetic disorder characterized by low levels of phosphate in the blood. This condition leads to softening and weakening of the bones, making them prone to fractures and deformities. One of the genes associated with this condition is the CLCN5 gene, which plays a crucial role in phosphate regulation in the

Symptoms and Testing information for DLX3 Gene Trichodontoosseous Syndrome Genetic Test

Trichodontoosseous syndrome is a rare genetic disorder that affects the development of teeth and bones. The DLX3 gene plays a crucial role in the development of these tissues, and mutations in this gene are responsible for the condition. Recognizing the symptoms of trichodontoosseous syndrome is essential for early diagnosis and management. DNA Labs UAE offers

Symptoms and Testing information for FAM20C Gene Raine Syndrome Genetic Test

FAM20C gene mutations are the primary cause of Raine Syndrome, a rare genetic disorder. This condition, also known as Raine Syndrome, is characterized by a variety of symptoms that can affect individuals from birth. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, providing crucial information for affected families. The cost of

Symptoms and Testing information for CYP27B1 Gene Rickets Vitamin D Dependent Type 1 Genetic Test

In the realm of genetic testing and diagnostics, DNA Labs UAE stands at the forefront, offering a wide array of tests designed to detect and understand genetic disorders. Among these, the CYP27B1 Gene Rickets Vitamin D Dependent Type 1 Genetic Test is a crucial examination for individuals suspected of having Vitamin D-dependent rickets type 1

Symptoms and Testing information for VDR Gene Rickets Vitamin D-Resistant Type 2A Genetic Test

Vitamin D plays a crucial role in maintaining bone health by facilitating calcium absorption in the gut. However, for individuals with Vitamin D-Resistant Rickets (VDDR Type 2A), this process is impaired due to mutations in the Vitamin D Receptor (VDR) gene. This condition, also known as hereditary vitamin D-resistant rickets, is characterized by the body’s

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 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 PEX1 Gene Heimler syndrome type 1 Genetic Test

Symptoms of PEX1 Gene Heimler Syndrome Type 1 Heimler Syndrome is a rare genetic disorder, classified under the broader category of peroxisomal biogenesis disorders. It is primarily associated with mutations in the PEX1 gene. Individuals affected by Heimler Syndrome type 1 exhibit a range of symptoms that can significantly impact their quality of life. Recognizing

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