Symptoms and Testing information for COL11A1 Gene Fibrochondrogenesis Type 1 Genetic Test

Symptoms and Testing information for COL11A1 Gene Fibrochondrogenesis Type 1 Genetic Test

Fibrochondrogenesis type 1 is a rare genetic disorder that affects the development of the bones and cartilage, leading to significant skeletal abnormalities. This condition is caused by mutations in the COL11A1 gene, which plays a critical role in the production of type XI collagen, a crucial component of the cartilage matrix. Understanding the symptoms of […]

Symptoms and Testing information for TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Genetic Test

Symptoms and Testing information for TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Genetic Test

Diamond-Blackfan Anemia (DBA) is a rare inherited bone marrow failure disorder, characterized by an inability of the bone marrow to produce sufficient red blood cells. This leads to anemia and various other complications. A particular subtype of this disorder, known as Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis, is caused by mutations in the TSR2 […]

Symptoms and Testing information for TBX1 Gene DiGeorge Syndrome Genetic Test

Symptoms and Testing information for TBX1 Gene DiGeorge Syndrome Genetic Test

Symptoms of TBX1 Gene DiGeorge Syndrome Genetic Test DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome 22, which affects the development of several body systems. This condition can lead to a range of health issues and developmental delays. The TBX1 gene plays a crucial role in […]

Symptoms and Testing information for LRP2 Gene Donnai-Barrow Syndrome Genetic Test

Symptoms and Testing information for LRP2 Gene Donnai-Barrow Syndrome Genetic Test

Donnai-Barrow Syndrome (DBS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by distinctive facial features, hearing loss, vision problems, and developmental delays. This condition is caused by mutations in the LRP2 gene, which plays a crucial role in the development of various organs and tissues. Recognizing the symptoms […]

Symptoms and Testing information for TBC1D24 Gene DOOR Syndrome Genetic Test

Symptoms and Testing information for TBC1D24 Gene DOOR Syndrome Genetic Test

Symptoms of TBC1D24 Gene DOOR Syndrome Genetic Test DOOR syndrome, an acronym for Deafness, Onychodystrophy, Osteodystrophy, and mental Retardation, is a rare genetic disorder caused by mutations in the TBC1D24 gene. This complex condition presents a wide range of symptoms, impacting numerous bodily systems. Recognizing these symptoms early can be crucial for managing the condition […]

Symptoms and Testing information for SALL4 Gene Duane Retraction Syndrome Genetic Test

Symptoms and Testing information for SALL4 Gene Duane Retraction Syndrome Genetic Test

Understanding the intricacies of genetic conditions is crucial for early diagnosis and management. Among these conditions, Duane Retraction Syndrome (DRS) stands out due to its unique manifestations and genetic underpinnings. Specifically, mutations in the SALL4 gene have been linked to this condition, making genetic testing a valuable tool for diagnosis. At DNA Labs UAE, we […]

Symptoms and Testing information for HMG20B Gene Dysmorphism HMG20B Related Genetic Test

Symptoms and Testing information for HMG20B Gene Dysmorphism HMG20B Related Genetic Test

In the complex world of genetics, understanding the role and impact of specific genes on human health is a crucial aspect of medical science. Among these, the HMG20B gene plays a significant role in various biological processes, including neural development. Dysmorphism in the HMG20B gene can lead to a range of health issues, making it […]

Symptoms and Testing information for TP63 Gene Ectodactyly Ectodermal Dysplasia and Cleft Lippalate Syndrome Type 3 Genetic Test

Symptoms and Testing information for TP63 Gene Ectodactyly Ectodermal Dysplasia and Cleft Lippalate Syndrome Type 3 Genetic Test

Understanding the complexities of genetic disorders is crucial for early diagnosis and treatment. Among these, TP63 Gene Ectodactyly Ectodermal Dysplasia and Cleft Lip/Palate Syndrome Type 3 (EEC Syndrome Type 3) stands out due to its distinctive symptoms and the critical need for accurate diagnosis. DNA Labs UAE is at the forefront of providing comprehensive genetic […]

Symptoms and Testing information for EVC Gene Ellis-van Creveld Syndrome Genetic Test

Symptoms and Testing information for EVC Gene Ellis-van Creveld Syndrome Genetic Test

Ellis-van Creveld syndrome (EVC) is a rare genetic disorder that affects bone growth, leading to skeletal dysplasia among other symptoms. Understanding the signs and symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for EVC, providing a vital tool for families seeking answers. Symptoms of […]

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