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

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

Limb-girdle muscular dystrophy (LGMD) represents a diverse group of genetic disorders characterized by progressive weakness and wasting of the muscles, primarily affecting the shoulder and pelvic girdles. Among the various subtypes of LGMD, autosomal recessive type 2I, caused by mutations in the FKRP (fukutin-related protein) gene, stands out due to its unique genetic basis and […]

Symptoms and Testing information for GBA Gene Lewy body dementia susceptibility to Genetic Test

Symptoms and Testing information for GBA Gene Lewy body dementia susceptibility to Genetic Test

Lewy body dementia (LBD) is a complex, progressive brain disorder that affects an individual’s ability to think, reason, and move. It shares symptoms with other more common diseases like Alzheimer’s and Parkinson’s, making it challenging to diagnose accurately. However, advancements in genetics have opened new doors to understanding the susceptibility to LBD, particularly through the […]

Symptoms and Testing information for MYOT Gene Limb-girdle muscular dystrophy autosomal dominant type 1A Genetic Test

Symptoms and Testing information for MYOT Gene Limb-girdle muscular dystrophy autosomal dominant type 1A Genetic Test

Limb-girdle muscular dystrophy (LGMD) represents a diverse group of genetic disorders characterized by progressive weakness and wasting of the muscles, particularly those around the hips and shoulders, known as the limb-girdle area. Among the various subtypes of LGMD, autosomal dominant type 1A, linked to mutations in the MYOT gene, stands out for its distinct clinical […]

Symptoms and Testing information for POLR3A Gene Leukodystrophy hypomyelinating type 7 Genetic Test

Symptoms and Testing information for POLR3A Gene Leukodystrophy hypomyelinating type 7 Genetic Test

Understanding POLR3A Gene Leukodystrophy Hypomyelinating Type 7 Leukodystrophies are a group of rare genetic disorders characterized by the progressive degeneration of the white matter in the brain. Among these, POLR3A gene leukodystrophy hypomyelinating type 7 stands out due to its unique genetic underpinnings and the specific symptoms it presents. Caused by mutations in the POLR3A […]

Symptoms and Testing information for POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test

Symptoms and Testing information for POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test

“` Understanding POLR3B Gene Leukodystrophy Hypomyelinating Type 8 Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord, and often the peripheral nerves. Among these, POLR3B gene leukodystrophy, also known as hypomyelinating leukodystrophy type 8, stands out due to its unique genetic basis and clinical manifestations. This condition is […]

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