Symptoms and Testing information for PAFAH1B1 Gene Lissencephaly Type 1 Genetic Test

Symptoms and Testing information for PAFAH1B1 Gene Lissencephaly Type 1 Genetic Test

Lissencephaly, also known as “smooth brain” syndrome, is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). One of the genes associated with this condition is PAFAH1B1, and its mutations can lead to Lissencephaly Type 1. DNA Labs UAE offers a […]

Symptoms and Testing information for MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism Genetic Test

Symptoms and Testing information for MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism Genetic Test

Understanding the genetic underpinnings of various conditions is crucial in the realm of medical science, particularly when it comes to rare syndromes. One such condition is the MYO18B Gene Klippel-Feil Syndrome Type 4, an autosomal dominant disorder characterized by a unique combination of symptoms, including myopathy and facial dysmorphism. DNA Labs UAE is at the […]

Symptoms and Testing information for RELN Gene Lissencephaly Type 2 Norman-Roberts Type Genetic Test

Symptoms and Testing information for RELN Gene Lissencephaly Type 2 Norman-Roberts Type Genetic Test

Lissencephaly, meaning “smooth brain,” is a rare, genetic brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an unusually small head (microcephaly). Among the various types of lissencephaly, Type 2, also known as Norman-Roberts syndrome, is distinguished by its genetic cause: mutations in the RELN gene. This article delves […]

Symptoms and Testing information for COL2A1 Gene Kniest Dysplasia Genetic Test

Symptoms and Testing information for COL2A1 Gene Kniest Dysplasia Genetic Test

Kniest Dysplasia is a rare form of skeletal dysplasia, primarily characterized by short stature, enlarged joints, and specific facial features. It stems from mutations in the COL2A1 gene, which plays a crucial role in the development and maintenance of connective tissues throughout the body. Understanding the symptoms and undergoing genetic testing for the COL2A1 gene […]

Symptoms and Testing information for KANSL1 Gene Koolen Syndrome Genetic Test

Symptoms and Testing information for KANSL1 Gene Koolen Syndrome Genetic Test

Koolen-De Vries syndrome, associated with mutations in the KANSL1 gene, is a condition that has garnered significant attention within the medical and scientific communities. DNA Labs UAE stands at the forefront of genetic testing, offering comprehensive services to diagnose this condition. This article will delve into the symptoms associated with KANSL1 gene mutations, the significance […]

Symptoms and Testing information for FGF10 Gene LADD Syndrome Genetic Test

Symptoms and Testing information for FGF10 Gene LADD Syndrome Genetic Test

Understanding the Symptoms of FGF10 Gene LADD Syndrome and the Importance of Genetic Testing Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome is a rare genetic disorder that affects various parts of the body, including the tear ducts, ears, teeth, and fingers. It is caused by mutations in the FGF10 gene, which plays a crucial role in the development of […]

Symptoms and Testing information for FGFR2 Gene LADD Syndrome Genetic Test

Symptoms and Testing information for FGFR2 Gene LADD Syndrome Genetic Test

In the realm of genetic disorders, Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome stands out due to its rarity and the complex nature of its symptoms. At DNA Labs UAE, we specialize in providing comprehensive genetic testing, including for the FGFR2 gene, which has been linked to LADD Syndrome. Understanding the symptoms of this condition is crucial for early […]

Symptoms and Testing information for EXT1 Gene Langer-Giedion Syndrome Genetic Test

Symptoms and Testing information for EXT1 Gene Langer-Giedion Syndrome Genetic Test

Symptoms of EXT1 Gene Langer-Giedion Syndrome Genetic Test Langer-Giedion Syndrome, also known as Trichorhinophalangeal Syndrome type II, is a rare genetic disorder that affects various parts of the body. This condition is characterized by distinctive facial features, multiple noncancerous bone growths called exostoses, and short stature. DNA Labs UAE offers a comprehensive genetic test for […]

Symptoms and Testing information for TRPS1 Gene Langer-Giedion Syndrome Genetic Test

Symptoms and Testing information for TRPS1 Gene Langer-Giedion Syndrome Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide insights into various genetic conditions. One such condition that DNA Labs UAE can help diagnose is the Langer-Giedion Syndrome (LGS), also known as Tricho-rhino-phalangeal syndrome type II, through the TRPS1 Gene Langer-Giedion Syndrome Genetic […]

Symptoms and Testing information for FLNB Gene Larsen Syndrome Genetic Test

Symptoms and Testing information for FLNB Gene Larsen Syndrome Genetic Test

Larsen syndrome is a rare genetic disorder characterized by multiple joint dislocations, craniofacial abnormalities, and other skeletal anomalies. It is caused by mutations in the FLNB gene, which plays a crucial role in the development and maintenance of the skeletal system. DNA Labs UAE offers a comprehensive genetic test for Larsen syndrome, focusing on the […]

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