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Symptoms and Testing information for PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 Genetic Test

The PNPT1 gene plays a crucial role in the mitochondrial RNA import and is implicated in a condition known as Combined Oxidative Phosphorylation Deficiency 13 (COXPD13). This condition is a rare but serious genetic disorder that affects mitochondrial function, leading to a wide array of symptoms and health issues. Recognizing the symptoms early on can

Symptoms and Testing information for MTFMT Gene Combined oxidative phosphorylation deficiency type 15 Genetic Test

In the realm of genetic testing and diagnosis, DNA Labs UAE stands at the forefront, offering a wide array of tests designed to uncover and understand the complex interplay of genes and health. Among these, the MTFMT Gene Combined Oxidative Phosphorylation Deficiency Type 15 Genetic Test is a critical tool for diagnosing a rare but

Symptoms and Testing information for MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 Genetic Test

In the realm of medical genetics, understanding the root causes of various diseases is paramount. One such condition that has garnered attention in recent years is the Combined Oxidative Phosphorylation Deficiency Type 16, linked to mutations in the MRPL44 gene. DNA Labs UAE is at the forefront of diagnosing this rare genetic disorder, providing comprehensive

Symptoms and Testing information for ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 Genetic Test

At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services that cater to a wide range of genetic conditions. One of the specialized tests we offer is for the ELAC2 gene, which is associated with Combined Oxidative Phosphorylation Deficiency type 17 (COXPD17), a rare genetic disorder. This article aims to provide an

Symptoms and Testing information for TARS2 Gene Combined oxidative phosphorylation deficiency type 21 Genetic Test

Understanding genetic conditions and their impact on health is crucial for early diagnosis and management. One such condition is Combined Oxidative Phosphorylation Deficiency Type 21 (COXPD21), which is linked to mutations in the TARS2 gene. DNA Labs UAE offers a comprehensive genetic test for this condition, providing essential information for affected individuals and their families.

Symptoms and Testing information for ASS1 Gene Citrullinemia Genetic Test

Citrullinemia is a rare genetic disorder that affects the body’s ability to remove ammonia from the bloodstream. This condition is caused by mutations in the ASS1 gene, which plays a crucial role in the urea cycle. The urea cycle is a series of chemical reactions in the liver that convert ammonia, a toxic byproduct of

Symptoms and Testing information for BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test

Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a rare genetic disorder that impacts the body’s ability to properly process certain amino acids found in proteins. This condition can lead to a range of symptoms, varying in severity from mild to severe, and can affect individuals differently. Understanding the symptoms and the availability of genetic testing

Symptoms and Testing information for CPS1 Gene Carbamoylphosphate synthetase I deficiency Genetic Test

Carbamoylphosphate synthetase I deficiency (CPS1 deficiency) is a rare genetic disorder that affects the urea cycle, a series of biochemical processes in the liver responsible for removing ammonia from the bloodstream. Ammonia, a byproduct of protein metabolism, is toxic if not properly eliminated from the body. The CPS1 gene encodes an enzyme that plays a

Symptoms and Testing information for CPT1A Gene Carnitine palmitoyltransferase 1A deficiency Genetic Test

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare genetic disorder that affects the body’s ability to metabolize certain fats into energy, particularly during periods of fasting or illness. This condition is caused by mutations in the CPT1A gene, leading to a deficiency or malfunctioning of the enzyme carnitine palmitoyltransferase 1A. This enzyme plays a critical

Symptoms and Testing information for SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency Genetic Test

Understanding the implications of genetic disorders is crucial for early diagnosis and management. One such disorder, Carnitine-acylcarnitine translocase (CACT) deficiency, is a rare but severe condition that affects the body’s ability to convert certain fats into energy, particularly during fasting or illness. This disorder is caused by mutations in the SLC25A20 gene. DNA Labs UAE