Symptoms and Testing information for BCHE Gene Butyrylcholinesterase deficiency Genetic Test

Symptoms and Testing information for BCHE Gene Butyrylcholinesterase deficiency Genetic Test

Symptoms of BCHE Gene Butyrylcholinesterase Deficiency Genetic Test Butyrylcholinesterase (BChE) deficiency is a rare genetic condition that can significantly impact an individual’s health and response to certain medications. It is caused by mutations in the BCHE gene, which leads to a reduction or absence of the butyrylcholinesterase enzyme. This enzyme plays a crucial role in […]

Symptoms and Testing information for SLC22A5 Gene Carnitine deficiency Genetic Test

Symptoms and Testing information for SLC22A5 Gene Carnitine deficiency Genetic Test

Carnitine deficiency is a genetic condition that affects the body’s ability to metabolize fats into energy, particularly during periods of fasting or exercise. This deficiency can lead to various symptoms and health issues, ranging from mild to severe. The SLC22A5 gene plays a crucial role in the transport of carnitine into cells, and mutations in […]

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

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 CPT1B Gene Carnitine palmitoyltransferase 1B deficiency Genetic Test

Symptoms and Testing information for CPT1B Gene Carnitine palmitoyltransferase 1B deficiency Genetic Test

Carnitine palmitoyltransferase 1B (CPT1B) deficiency is a rare genetic disorder that affects the body’s ability to metabolize certain types of fats into energy, particularly during periods of fasting or physical stress. This condition, which falls under the broader category of fatty acid oxidation disorders, can lead to various symptoms and health issues if not identified […]

Symptoms and Testing information for CPT2 Gene Carnitine palmitoyltransferase 2 deficiency infantile Genetic Test

Symptoms and Testing information for CPT2 Gene Carnitine palmitoyltransferase 2 deficiency infantile Genetic Test

Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare genetic disorder that affects the body’s ability to metabolize long-chain fatty acids. This metabolic condition, particularly in its infantile form, can lead to severe and potentially life-threatening symptoms if not diagnosed and managed promptly. DNA Labs UAE offers a comprehensive genetic test for the CPT2 gene to […]

Symptoms and Testing information for CPT2 Gene Carnitine palmitoyltransferase 2 deficiency lethal neonatal Genetic Test

Symptoms and Testing information for CPT2 Gene Carnitine palmitoyltransferase 2 deficiency lethal neonatal Genetic Test

Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare genetic disorder that affects the body’s ability to metabolize certain types of fats. This condition, particularly in its lethal neonatal form, is a severe metabolic disorder that can lead to serious health complications and, if untreated, can be fatal shortly after birth. DNA Labs UAE offers a […]

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

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 […]

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