Symptoms and Testing information for FLNA Gene Melnick-Needles syndrome Genetic Test

Symptoms and Testing information for FLNA Gene Melnick-Needles syndrome Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a wide range of services to cater to various genetic conditions. Among these, the FLNA Gene Melnick-Needles Syndrome Genetic Test is a significant offering, designed to help diagnose this rare genetic disorder. Melnick-Needles Syndrome (MNS) is a condition that affects the skeletal […]

Symptoms and Testing information for CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia Genetic Test

Symptoms and Testing information for CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia Genetic Test

Genetic testing has become a cornerstone in the diagnosis and understanding of various genetic disorders. One such condition that has garnered attention is the syndrome caused by mutations in the CASK gene. This condition is characterized by mental retardation and microcephaly with pontine and cerebellar hypoplasia. DNA Labs UAE is at the forefront of providing […]

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 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 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 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 CAPN3 Gene Limb-girdle muscular dystrophy autosomal recessive type 2A Genetic Test

Symptoms and Testing information for CAPN3 Gene Limb-girdle muscular dystrophy autosomal recessive type 2A Genetic Test

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders characterized by progressive muscle weakness and atrophy, primarily affecting the shoulder and pelvic girdles. Among the various subtypes, LGMD autosomal recessive type 2A, caused by mutations in the CAPN3 gene, is one of the most common. The CAPN3 gene provides instructions for producing a protein […]

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 DYSF Gene Limb-girdle muscular dystrophy autosomal recessive type 2B Genetic Test

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

Limb-girdle muscular dystrophy (LGMD) represents a group of genetically and clinically heterogeneous muscle diseases characterized by progressive weakness and wasting of the limb-girdle muscles. Among the various types of LGMD, autosomal recessive type 2B, caused by mutations in the DYSF gene, stands out due to its unique pathophysiology and clinical manifestations. DNA Labs UAE offers […]

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