Symptoms and Testing information for LAMA5 Gene Focal Segmental Glomerulosclerosis LAMA5 Related Genetic Test

Symptoms and Testing information for LAMA5 Gene Focal Segmental Glomerulosclerosis LAMA5 Related Genetic Test

Focal Segmental Glomerulosclerosis (FSGS) is a complex kidney disease that affects the glomeruli, the tiny filtering units within the kidneys. This condition can lead to severe renal impairment and, eventually, kidney failure. Among the genetic forms of FSGS, mutations in the LAMA5 gene have been identified as a contributing factor. Recognizing the symptoms associated with […]

Symptoms and Testing information for UGT1A1 Gene Gilbert Syndrome Genetic Test

Symptoms and Testing information for UGT1A1 Gene Gilbert Syndrome Genetic Test

In the realm of genetic diagnostics and personalized medicine, understanding the intricacies of specific genetic conditions is paramount. One such condition, Gilbert Syndrome, has garnered attention for its relatively common occurrence and mild manifestation, yet it underscores the importance of genetic testing for accurate diagnosis and management. Gilbert Syndrome is primarily associated with the UGT1A1 […]

Symptoms and Testing information for UGT1A1 Gene Crigler-Najjar Syndrome Type 2 Genetic Test

Symptoms and Testing information for UGT1A1 Gene Crigler-Najjar Syndrome Type 2 Genetic Test

Understanding the UGT1A1 Gene and Crigler-Najjar Syndrome Type 2 The UGT1A1 gene plays a critical role in the body, primarily responsible for the process of glucuronidation, an essential phase of bilirubin detoxification. Bilirubin, a byproduct of red blood cell breakdown, requires proper processing to be eliminated from the body safely. Mutations in the UGT1A1 gene […]

Symptoms and Testing information for RXFP2 Gene Cryptorchidism Genetic Test

Symptoms and Testing information for RXFP2 Gene Cryptorchidism Genetic Test

Cryptorchidism is a condition that affects males, where one or both of the testes fail to descend into the scrotum. This condition can have several implications on health and fertility if left untreated. Understanding the genetic basis of cryptorchidism can help in early diagnosis and management. The RXFP2 gene has been identified as one of […]

Symptoms and Testing information for CTNS Gene Cystinosis Nephropathic Genetic Test

Symptoms and Testing information for CTNS Gene Cystinosis Nephropathic Genetic Test

Cystinosis is a rare, inherited metabolic disorder where the body accumulates the amino acid cystine within cells. This build-up leads to the formation of crystals that can damage various organs and tissues, especially the kidneys and eyes. The CTNS gene is responsible for this condition, and mutations in this gene lead to the different forms […]

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