Symptoms and Testing information for FXN Gene Friedreich Ataxia Genetic Test

Symptoms and Testing information for FXN Gene Friedreich Ataxia Genetic Test

Friedreich ataxia (FRDA) is a rare, inherited disease that causes progressive damage to the nervous system. It manifests in symptoms ranging from gait disturbance and speech problems to heart disease. The condition is named after the physician Nicholaus Friedreich, who first described the syndrome in the 1860s. It’s caused by a defect in the FXN […]

Symptoms and Testing information for FLNA Gene Frontometaphyseal Dysplasia Genetic Test

Symptoms and Testing information for FLNA Gene Frontometaphyseal Dysplasia Genetic Test

In the realm of genetic diagnostics, understanding and identifying specific genetic conditions early on can lead to better management and treatment options. One such condition that has garnered attention in the medical community is Frontometaphyseal Dysplasia (FMD), a disorder that stems from mutations in the FLNA gene. DNA Labs UAE, a leading facility in genetic […]

Symptoms and Testing information for HOXB1 Gene Facial paresis type 3 Genetic Test

Symptoms and Testing information for HOXB1 Gene Facial paresis type 3 Genetic Test

Facial paresis type 3, a condition characterized by the weakness of facial muscles, is a rare but significant disorder that affects individuals right from birth. This condition is primarily associated with mutations in the HOXB1 gene, which plays a crucial role in the development of the facial nerve. Understanding the symptoms and undergoing genetic testing […]

Symptoms and Testing information for CHRNA2 Gene Epilepsy nocturnal frontal lobe type 4 Genetic Test

Symptoms and Testing information for CHRNA2 Gene Epilepsy nocturnal frontal lobe type 4 Genetic Test

Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures. Among its various forms, nocturnal frontal lobe epilepsy (NFLE) presents a unique set of challenges and symptoms for those affected. The CHRNA2 gene has been identified as one of the genetic factors contributing to NFLE, specifically Type 4. Understanding the symptoms and genetic underpinnings of […]

Symptoms and Testing information for FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test

Symptoms and Testing information for FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test

Facioscapulohumeral dystrophy (FSHD) is a complex and rare muscular disorder, traditionally linked to the DUX4 gene. However, recent advancements in genetic research have identified a related phenotype associated with mutations in the FAT1 gene, leading to a condition that mimics FSHD. DNA Labs UAE, a leading genetic testing facility, offers a comprehensive FAT1 gene facioscapulohumeral […]

Symptoms and Testing information for SCARB2 Gene Epilepsy progressive myoclonic type 4 with or without renal failure Genetic Test

Symptoms and Testing information for SCARB2 Gene Epilepsy progressive myoclonic type 4 with or without renal failure Genetic Test

Progressive Myoclonic Epilepsy type 4 (PME4), caused by mutations in the SCARB2 gene, is a rare neurological disorder characterized by a combination of epilepsy, myoclonus (involuntary muscle jerks), and, in some cases, renal failure. Understanding the symptoms and genetic underpinnings of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a […]

Symptoms and Testing information for CACNA1A Gene Familial hemiplegic migraine type 1 Genetic Test

Symptoms and Testing information for CACNA1A Gene Familial hemiplegic migraine type 1 Genetic Test

Understanding the complexities of genetic disorders is crucial for early diagnosis and effective management. One such genetic condition is Familial Hemiplegic Migraine Type 1 (FHM1), linked to mutations in the CACNA1A gene. DNA Labs UAE offers a comprehensive genetic test for this condition, aiming to provide individuals and families with the necessary information for better […]

Symptoms and Testing information for PRICKLE2 Gene Epilepsy progressive myoclonic type 5 Genetic Test

Symptoms and Testing information for PRICKLE2 Gene Epilepsy progressive myoclonic type 5 Genetic Test

In the realm of genetic testing and diagnosis, understanding the intricacies of specific genes and their associated conditions is paramount for both patients and healthcare providers. One such condition, epilepsy progressive myoclonic type 5, has been linked to mutations in the PRICKLE2 gene. This article delves into the symptoms associated with this condition, the significance […]

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