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Symptoms and Testing information for POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Genetic Test

Symptoms and Testing information for POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Genetic Test

Symptoms of POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Genetic Test Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (KLICK syndrome) is a rare genetic disorder, characterized by a trio of skin abnormalities. This condition is caused by mutations in the POMP gene, which plays a critical role in skin development and […]

Symptoms and Testing information for MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans X-Linked Genetic Test

Symptoms and Testing information for MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans X-Linked Genetic Test

Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder that primarily affects the skin and eyes. It is characterized by widespread keratosis pilaris, scarring alopecia of the scalp, and, in some cases, photophobia due to eye involvement. The condition is linked to mutations in the MBTPS2 gene and follows an X-linked inheritance pattern, meaning […]

Symptoms and Testing information for IRAK4 Gene IRAK4 Deficiency Genetic Test

Symptoms and Testing information for IRAK4 Gene IRAK4 Deficiency Genetic Test

Symptoms of IRAK4 Gene IRAK4 Deficiency Interleukin-1 receptor-associated kinase 4 (IRAK4) deficiency is a rare genetic condition that plays a critical role in the immune system’s ability to fight off certain bacterial infections. The IRAK4 gene provides instructions for making a protein involved in the body’s immune response. A deficiency in this gene can lead […]

Symptoms and Testing information for IKBKG Gene Invasive Pneumococcal Disease Recurrent Isolated Type 2 Genetic Test

Symptoms and Testing information for IKBKG Gene Invasive Pneumococcal Disease Recurrent Isolated Type 2 Genetic Test

In the realm of genetic testing and personalized medicine, the identification and understanding of specific genetic markers have become crucial in diagnosing and managing various diseases. One such condition that has garnered attention is the IKBKG Gene Invasive Pneumococcal Disease Recurrent Isolated Type 2 (IPD). This condition is particularly challenging due to its recurrent nature […]

Symptoms and Testing information for IRAK4 Gene Invasive Pneumococcal Disease Recurrent Isolated Type 1 Genetic Test

Symptoms and Testing information for IRAK4 Gene Invasive Pneumococcal Disease Recurrent Isolated Type 1 Genetic Test

In the realm of genetic testing and personalized medicine, understanding the nuances of specific genes and their impact on health has never been more critical. One such area of focus is the IRAK4 gene and its association with Invasive Pneumococcal Disease (IPD) Recurrent Isolated Type 1. This genetic condition, although rare, can have significant implications […]

Symptoms and Testing information for ITGA3 Gene Interstitial Lung Disease Nephrotic Syndrome and Epidermolysis Bullosa Congenita Genetic Test

Symptoms and Testing information for ITGA3 Gene Interstitial Lung Disease Nephrotic Syndrome and Epidermolysis Bullosa Congenita Genetic Test

Symptoms of ITGA3 Gene Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa Congenita The ITGA3 gene plays a crucial role in the proper development and functioning of various organs in the human body, including the skin, lungs, and kidneys. Mutations in the ITGA3 gene can lead to a complex spectrum of diseases, including Interstitial Lung […]

Symptoms and Testing information for IL12A Gene Interleukin 12A Deficiency Genetic Test

Symptoms and Testing information for IL12A Gene Interleukin 12A Deficiency Genetic Test

Symptoms of IL12A Gene Interleukin 12A Deficiency The IL12A gene plays a crucial role in the immune system by encoding the interleukin-12 subunit p35. This protein is part of a cytokine that acts as a communication signal among immune cells, helping to initiate and regulate the body’s defense mechanisms against infections. A deficiency in the […]

Symptoms and Testing information for ADAM17 Gene Inflammatory Skin and Bowel Disease Neonatal Type 1 Genetic Test

Symptoms and Testing information for ADAM17 Gene Inflammatory Skin and Bowel Disease Neonatal Type 1 Genetic Test

Symptoms of ADAM17 Gene Inflammatory Skin and Bowel Disease Neonatal Type 1 Genetic Test In the realm of genetic testing and diagnostics, the ADAM17 gene inflammatory skin and bowel disease neonatal type 1 genetic test represents a significant advancement in identifying a rare but serious condition affecting newborns. This condition, stemming from mutations in the […]

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