Symptoms and Testing information for MGP Gene Keutel Syndrome Genetic Test

Symptoms and Testing information for MGP Gene Keutel Syndrome Genetic Test

Symptoms of MGP Gene Keutel Syndrome Genetic Test Keutel Syndrome is a rare genetic disorder, primarily characterized by abnormal calcification (the buildup of calcium in body tissue, causing it to harden) of cartilage, peripheral pulmonary stenosis, hearing loss, and brachytelephalangy (abnormal shortness of the bones in the toes and fingers). This condition is caused by […]

Symptoms and Testing information for ZIC2 Gene Holoprosencephaly Type 5 Genetic Test

Symptoms and Testing information for ZIC2 Gene Holoprosencephaly Type 5 Genetic Test

Understanding the genetic underpinnings of various conditions is crucial in the realm of medical science. One such condition that has garnered attention for its complexity and the critical need for accurate diagnosis is Holoprosencephaly Type 5, associated with mutations in the ZIC2 gene. DNA Labs UAE stands at the forefront of genetic testing, offering comprehensive […]

Symptoms and Testing information for GLI2 Gene Holoprosencephaly-Type 9 Genetic Test

Symptoms and Testing information for GLI2 Gene Holoprosencephaly-Type 9 Genetic Test

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the embryonic forebrain into distinct hemispheres and ventricles. It is a condition with a broad spectrum of clinical manifestations, ranging from severe brain structure abnormalities and facial dysmorphisms to more subtle clinical signs. One of the genetic variations associated with this condition is […]

Symptoms and Testing information for TBX5 Gene Holt-Oram Syndrome Genetic Test

Symptoms and Testing information for TBX5 Gene Holt-Oram Syndrome Genetic Test

Holt-Oram syndrome, also known as heart-hand syndrome, is a genetic condition characterized by abnormalities in the hands and arms and heart defects. This condition is caused by mutations in the TBX5 gene. Recognizing the symptoms early and undergoing genetic testing can be crucial for managing and treating the condition effectively. DNA Labs UAE offers a […]

Symptoms and Testing information for LMNA Gene Hutchinson-Gilford Progeria Genetic Test

Symptoms and Testing information for LMNA Gene Hutchinson-Gilford Progeria Genetic Test

In the realm of genetic testing, the identification and understanding of rare genetic conditions have taken a significant leap forward, thanks to advancements in technology and research. Among these conditions, Hutchinson-Gilford Progeria Syndrome (HGPS) stands out due to its rarity and the unique challenges it presents. This condition, primarily caused by mutations in the LMNA […]

Symptoms and Testing information for FLVCR2 Gene Hydranencephaly Fowler Type Genetic Test

Symptoms and Testing information for FLVCR2 Gene Hydranencephaly Fowler Type Genetic Test

Hydranencephaly is a rare neurological condition characterized by the absence of cerebral hemispheres, which are replaced by sacs filled with cerebrospinal fluid. One specific form of this condition, known as Fowler type, has been linked to mutations in the FLVCR2 gene. DNA Labs UAE is at the forefront of diagnosing this genetic disorder through the […]

Symptoms and Testing information for HYLS1 Gene Hydrolethalus Syndrome Genetic Test

Symptoms and Testing information for HYLS1 Gene Hydrolethalus Syndrome Genetic Test

Hydrolethalus Syndrome is a rare genetic disorder that primarily affects the development of the fetus, leading to severe malformations and, in most cases, resulting in stillbirth or death shortly after birth. This condition is caused by mutations in the HYLS1 gene, which plays a crucial role in the early stages of embryonic development. Recognizing the […]

Symptoms and Testing information for AHCY Gene Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase Genetic Test

Symptoms and Testing information for AHCY Gene Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase Genetic Test

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (AHCY) is a rare genetic disorder affecting the body’s ability to process certain amino acids properly. This condition can lead to a range of symptoms and health issues, making it crucial for individuals to understand the potential signs and the importance of genetic testing. DNA Labs UAE offers a […]

Symptoms and Testing information for PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 Genetic Test

Symptoms and Testing information for PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 Genetic Test

Symptoms of PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 Hyperphosphatasia with mental retardation syndrome type 1 (HPMRS1), also known as Mabry syndrome, is a rare genetic disorder caused by mutations in the PIGV gene. This condition is characterized by elevated levels of alkaline phosphatase in the blood, intellectual disability, and various physical anomalies. […]

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