Bardet-Biedl Syndrome (BBS) is a complex genetic disorder affecting multiple body systems. Among its subtypes, Bardet-Biedl Syndrome Type 7, caused by mutations in the BBS7 gene, is of particular interest due to its unique manifestations and inheritance patterns. Recognizing the symptoms early can lead to a timely diagnosis, which is crucial for managing the condition […]
Nephrology Diseases
Symptoms and Testing information for TTC8 Gene Bardet-Biedl Syndrome Type 8 Genetic Test
Bardet-Biedl Syndrome (BBS) is a complex genetic condition affecting multiple organ systems within the body. Among the different types of this syndrome, Bardet-Biedl Syndrome Type 8 is particularly notable for being caused by mutations in the TTC8 gene. This article delves into the symptoms associated with this specific type of BBS and highlights the genetic […]
Symptoms and Testing information for BBS9 Gene Bardet-Biedl Syndrome Type 9 Genetic Test
Bardet-Biedl Syndrome (BBS) is a complex genetic condition that affects many parts of the body. Among the different genes associated with this condition, mutations in the BBS9 gene lead to Bardet-Biedl Syndrome Type 9. This condition is rare and has a wide range of symptoms, making it crucial for individuals to undergo genetic testing for […]
Symptoms and Testing information for LZTFL1 Gene Bardet-Biedl Syndrome LZTFL1 Related Genetic Test
Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that affects multiple body systems. This condition, which presents a wide variety of symptoms, is caused by mutations in at least 14 different genes, one of which is the LZTFL1 gene. Understanding the symptoms and the genetic underpinnings of BBS is crucial for early diagnosis and management […]
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 BBS10 Gene Bardet-Biedl Syndrome Type 10 Genetic Test
Bardet-Biedl Syndrome (BBS) is a complex genetic disorder affecting multiple body systems. Among the various genes associated with BBS, mutations in the BBS10 gene are responsible for Bardet-Biedl Syndrome Type 10. Recognizing the symptoms associated with this genetic condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for […]
Symptoms and Testing information for TRIM32 Gene Bardet-Biedl Syndrome Type 11 Genetic Test
In the realm of genetic testing, advancements have paved the way for early detection and management of various genetic disorders. Among these, Bardet-Biedl Syndrome (BBS) represents a complex condition that affects multiple body systems. Type 11 of this syndrome, linked to mutations in the TRIM32 gene, underscores the importance of genetic testing for individuals showing […]
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 GPR101 Gene Acromegaly Predisposition to Due to Germline GPR101 Mutation Genetic Test
Acromegaly is a rare hormonal disorder that results from an excess of growth hormone (GH) in the body, often caused by a benign tumor on the pituitary gland. This condition can lead to abnormal growth and size of the hands, feet, and facial features. In some cases, the cause of acromegaly is linked to genetic […]
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 […]