Symptoms and Testing information for COL4A1 Gene Porencephaly Familial Genetic Test

Symptoms and Testing information for COL4A1 Gene Porencephaly Familial Genetic Test

Symptoms of COL4A1 Gene Porencephaly Familial Genetic Test Porencephaly, a rare neurological disorder, is often associated with mutations in the COL4A1 gene. This condition can lead to a variety of symptoms and challenges for those affected. Understanding these symptoms is crucial for early diagnosis and management. The COL4A1 gene plays a significant role in the […]

Symptoms and Testing information for LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test

Symptoms and Testing information for LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test

Understanding the symptoms of LAMA1 gene Poretti-Boltshauser syndrome is crucial for early diagnosis and management of this rare genetic condition. The LAMA1 gene plays a significant role in the development and functioning of the cerebellum, which is a part of the brain responsible for coordinating movement and maintaining balance. Mutations in the LAMA1 gene can […]

Symptoms and Testing information for Chr. 22q13.3 Gene Phelan-McDermid Syndrome Genetic Test

Symptoms and Testing information for Chr. 22q13.3 Gene Phelan-McDermid Syndrome Genetic Test

Phelan-McDermid Syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare genetic condition that results from the deletion or mutation of the SHANK3 gene on chromosome 22. This condition affects various parts of the body and leads to a wide range of symptoms. Understanding these symptoms is crucial for early diagnosis and intervention, which […]

Symptoms and Testing information for DHODH Gene Postaxial Acrofacial Dysostosis Genetic Test

Symptoms and Testing information for DHODH Gene Postaxial Acrofacial Dysostosis Genetic Test

In the intricate world of genetics, understanding the underlying causes of various congenital conditions is paramount for early diagnosis and effective management. One such condition that has garnered attention within the scientific and medical communities is Postaxial Acrofacial Dysostosis (PAD), a disorder that affects the development of the face, limbs, and other body parts. At […]

Symptoms and Testing information for NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test

Symptoms and Testing information for NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test

Symptoms of NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test Pitt-Hopkins Syndrome is a rare genetic condition that affects various parts of the body, including the nervous system. It is characterized by developmental delays, moderate to severe intellectual disability, and distinctive facial features. The condition is caused by mutations in the NRXN1 gene, which plays a crucial […]

Symptoms and Testing information for PEPD Gene Prolidase Deficiency Genetic Test

Symptoms and Testing information for PEPD Gene Prolidase Deficiency Genetic Test

In the realm of genetic disorders, Prolidase Deficiency (PD) is a rare but impactful condition that can affect individuals from a very young age. DNA Labs UAE, a premier genetic laboratory, offers comprehensive testing for this condition through the PEPD Gene Prolidase Deficiency Genetic Test. This detailed examination is pivotal in diagnosing the disorder, allowing […]

Symptoms and Testing information for TCF4 Gene Pitt-Hopkins Syndrome Genetic Test

Symptoms and Testing information for TCF4 Gene Pitt-Hopkins Syndrome Genetic Test

Pitt-Hopkins Syndrome (PTHS) is a rare genetic condition characterized by developmental delays, possible breathing problems, recurrent seizures (epilepsy), and distinctive facial features. The syndrome is caused by mutations in the TCF4 gene, which plays a crucial role in the development of the nervous system. Early diagnosis and intervention are key to managing the symptoms and […]

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