Symptoms and Testing information for PIEZO2 Gene Marden-Walker syndrome Genetic Test

Understanding the complexities of genetic conditions is essential for early diagnosis and treatment. One such rare genetic disorder is Marden-Walker Syndrome, which is primarily associated with mutations in the PIEZO2 gene. At DNA Labs UAE, we offer comprehensive genetic testing to identify the presence of PIEZO2 gene mutations, a crucial step in diagnosing Marden-Walker Syndrome.

Symptoms and Testing information for ELK1 Gene Mental retardation non-syndromic Genetic Test

Understanding ELK1 Gene and Its Impact on Non-Syndromic Mental Retardation Mental retardation, also known as intellectual disability, is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ score under 70 along with difficulties in two or more adaptive behaviors that affect everyday, general living. Within the

Symptoms and Testing information for ATRX Gene Mental retardation with hypotonic facies syndrome X-linked Genetic Test

Understanding ATRX Gene Mental Retardation with Hypotonic Facies Syndrome X-Linked ATRX Gene Mental Retardation with Hypotonic Facies Syndrome X-Linked is a rare genetic disorder that affects intellectual development and physical features. This condition, also known as Alpha-thalassemia/mental retardation syndrome X-linked (ATR-X), is characterized by a range of symptoms that can impact an individual’s quality of

Symptoms and Testing information for NDE1 Gene Lissencephaly type 4 with microcephaly Genetic Test

Lissencephaly, a rare, gene-linked brain formation disorder, presents significant challenges not only to the affected individuals but also to their families and healthcare providers. Among its various types, Lissencephaly type 4 with microcephaly, caused by mutations in the NDE1 gene, is particularly notable. Understanding the symptoms and the availability of genetic testing can be crucial

Symptoms and Testing information for DCX Gene LissencephalySubcortical laminal heteropia X-linked Genetic Test

Lissencephaly, which literally means “smooth brain,” is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an unusually small head (microcephaly). Among the genetic variations that can lead to lissencephaly, mutations in the DCX (Doublecortin) gene are significant, especially in causing X-linked lissencephaly and subcortical band

Symptoms and Testing information for NUBPL Gene Leigh syndrome Genetic Test

Symptoms of NUBPL Gene Leigh Syndrome Genetic Test Leigh Syndrome, also known as Subacute Necrotizing Encephalomyelopathy, is a severe neurological disorder that typically arises in the first year of life. This condition, which stems from genetic mutations, including those affecting the NUBPL gene, leads to progressive loss of mental and movement abilities. Recognizing the symptoms

Symptoms and Testing information for SURF1 Gene Leigh syndrome due to COX deficiency Genetic Test

Leigh Syndrome, a severe neurological disorder, has puzzled medical professionals and affected families alike with its complex presentation and genetic underpinnings. Among the various genetic causes, mutations in the SURF1 gene, leading to cytochrome c oxidase (COX) deficiency, represent a significant subset of this condition. DNA Labs UAE stands at the forefront of genetic testing,

Symptoms and Testing information for LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies LIPT1 related Genetic Test

Leigh syndrome, a severe neurological disorder, arises due to genetic mutations that affect the energy production in mitochondria, the powerhouse of cells. Among these, mutations in the LIPT1 gene lead to a specific form of Leigh syndrome associated with pyruvate and alpha-ketoglutarate dehydrogenase deficiencies. This article explores the symptoms of LIPT1 gene Leigh syndrome, the
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