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

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 EFTUD2 Gene Mandibulofacial dysostosis with microcephaly Genetic Test

Symptoms and Testing information for EFTUD2 Gene Mandibulofacial dysostosis with microcephaly Genetic Test

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder that presents a spectrum of physical anomalies and developmental delays. This condition is primarily associated with mutations in the EFTUD2 gene. Understanding the symptoms and seeking early genetic testing can significantly impact the management and prognosis of the disorder. DNA Labs UAE offers a comprehensive […]

Symptoms and Testing information for CACNA1S Gene Malignant hyperthermia type 5 Genetic Test

Symptoms and Testing information for CACNA1S Gene Malignant hyperthermia type 5 Genetic Test

Understanding the CACNA1S Gene and Its Link to Malignant Hyperthermia Type 5 Malignant hyperthermia (MH) is a severe reaction to certain anesthesia drugs that can be life-threatening if not treated promptly. Among the genetic factors contributing to MH, mutations in the CACNA1S gene are significant. This gene plays a crucial role in muscle contraction, and […]

Symptoms and Testing information for XBP1 Gene Major affective disorder 7 Genetic Test

Symptoms and Testing information for XBP1 Gene Major affective disorder 7 Genetic Test

Major Affective Disorder 7, linked to the XBP1 gene, is a condition that has drawn significant attention within the medical community. DNA Labs UAE stands at the forefront of genetic testing, offering a comprehensive genetic test for this disorder. Understanding the symptoms and implications of this condition is crucial for early detection and management. The […]

Symptoms and Testing information for OCRL Gene Lowe oculocerebrorenal syndrome Genetic Test

Symptoms and Testing information for OCRL Gene Lowe oculocerebrorenal syndrome Genetic Test

Lowe oculocerebrorenal syndrome (OCRL) is a rare genetic condition that primarily affects the eyes, brain, and kidneys. This multisystem disorder, caused by mutations in the OCRL gene, presents a spectrum of symptoms and challenges for those affected. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, providing essential information for affected families. […]

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

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 NDE1 Gene Lissencephaly type 4 with microcephaly Genetic Test

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 TRAPPC11 Gene Limb-girdle muscular dystrophy autosomal recessive type 2S Genetic Test

Symptoms and Testing information for TRAPPC11 Gene Limb-girdle muscular dystrophy autosomal recessive type 2S Genetic Test

Limb-girdle muscular dystrophy (LGMD) is a diverse group of genetic disorders characterized by progressive weakness and degeneration of the muscles, primarily affecting the shoulder and pelvic girdles. Among the various types, LGMD type 2S, caused by mutations in the TRAPPC11 gene, represents a rare and autosomal recessive form of this condition. DNA Labs UAE is […]

Symptoms and Testing information for POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N Genetic Test

Symptoms and Testing information for POMT1 Gene Limb-girdle muscular dystrophy autosomal recessive type 2N Genetic Test

Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterized by progressive weakness and wasting of the muscles around the hips and shoulders (the limb-girdle area). Among the various types of LGMD, the autosomal recessive type 2N, caused by mutations in the POMT1 gene, stands out due […]

Symptoms and Testing information for FKTN Gene Limb-girdle muscular dystrophy autosomal recessive type 2M Genetic Test

Symptoms and Testing information for FKTN Gene Limb-girdle muscular dystrophy autosomal recessive type 2M Genetic Test

DNA Labs UAE is at the forefront of genetic testing and analysis, providing comprehensive services to diagnose and understand various genetic disorders. Among the numerous tests offered, one significant test focuses on the FKTN gene, which is associated with Limb-girdle muscular dystrophy autosomal recessive type 2M (LGMDR2, formerly LGMD2M). This article delves into the symptoms […]

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