Symptoms and Testing information for CCDC28B Gene Bardet-Biedl Syndrome Modifier of CCDC28B Related Genetic Test

Symptoms and Testing information for CCDC28B Gene Bardet-Biedl Syndrome Modifier of CCDC28B Related Genetic Test

Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects multiple body systems. It is characterized by symptoms such as vision loss, obesity, kidney dysfunction, extra fingers or toes, and learning difficulties. However, the manifestation of these symptoms can vary significantly among individuals, partly due to modifiers like the CCDC28B gene. Recognizing the importance of […]

Symptoms and Testing information for SLC12A2 Gene Bartter Syndrome Genetic Test

Symptoms and Testing information for SLC12A2 Gene Bartter Syndrome Genetic Test

Symptoms of SLC12A2 Gene Bartter Syndrome Genetic Test Bartter syndrome is a group of rare inherited disorders that affect the kidneys. Among the various genes associated with this condition, mutations in the SLC12A2 gene have been identified as a cause of a specific subtype of Bartter syndrome. This genetic anomaly disrupts the normal function of […]

Symptoms and Testing information for SLC12A3 Gene Bartter Syndrome Genetic Test

Symptoms and Testing information for SLC12A3 Gene Bartter Syndrome Genetic Test

Bartter Syndrome is a group of rare inherited disorders that affect the kidneys. The SLC12A3 gene plays a significant role in this condition, and mutations in this gene can lead to what is commonly referred to as Gitelman syndrome, which is a variant of Bartter syndrome. Understanding the symptoms of this genetic condition is crucial […]

Symptoms and Testing information for BBS12 Gene Bardet-Biedl Syndrome Type 12 Genetic Test

Symptoms and Testing information for BBS12 Gene Bardet-Biedl Syndrome Type 12 Genetic Test

Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects many parts of the body. Among the numerous genes associated with this condition, mutations in the BBS12 gene lead to Bardet-Biedl Syndrome Type 12. Individuals and families grappling with the symptoms of this condition or with a history of BBS can now turn to DNA […]

Symptoms and Testing information for SLC12A5 Gene Bartter Syndrome Genetic Test

Symptoms and Testing information for SLC12A5 Gene Bartter Syndrome Genetic Test

Understanding Bartter Syndrome and the Role of the SLC12A5 Gene Bartter Syndrome is a group of rare inherited disorders that affect the kidneys’ ability to reabsorb sodium. This leads to an imbalance of electrolytes, including potassium, chloride, and bicarbonate, in the body. Among the various genes implicated in this condition, the SLC12A5 gene has been […]

Symptoms and Testing information for HSD17B10 Gene 17-Beta Hydroxysteroid Dehydrogenase X Deficiency Genetic Test

Symptoms and Testing information for HSD17B10 Gene 17-Beta Hydroxysteroid Dehydrogenase X Deficiency Genetic Test

Understanding the complexities of genetic disorders is essential for early diagnosis and treatment. One such condition, HSD17B10 gene 17-beta hydroxysteroid dehydrogenase X deficiency, is a rare but significant metabolic disorder that affects various bodily functions. DNA Labs UAE offers comprehensive genetic testing to identify this condition, providing crucial insights into potential health risks and management […]

Symptoms and Testing information for CYP11A1 Gene Adrenal Insufficiency Congenital with 46XY Sex Reversal Partial or Complete Genetic Test

Symptoms and Testing information for CYP11A1 Gene Adrenal Insufficiency Congenital with 46XY Sex Reversal Partial or Complete Genetic Test

Adrenal insufficiency congenital, coupled with 46XY sex reversal, partial or complete, is a rare and complex genetic condition that can significantly impact an individual’s health and development. This condition is primarily caused by mutations in the CYP11A1 gene, which plays a crucial role in the production of steroid hormones in the body. These hormones are […]

Symptoms and Testing information for COL4A3 Gene Alport Syndrome Autosomal Recessive Genetic Test

Symptoms and Testing information for COL4A3 Gene Alport Syndrome Autosomal Recessive Genetic Test

Alport Syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It primarily affects the basement membranes of the kidneys, ears, and eyes, leading to progressive loss of kidney function and other related symptoms. This condition can be inherited in an autosomal recessive manner, which means that an individual must inherit […]

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