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ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

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The ECHS1 gene encodes the mitochondrial enzyme short-chain enoyl-CoA hydratase 1, which plays a critical role in the metabolism of fatty acids and amino acids. Mutations in the ECHS1 gene can lead to a deficiency in this enzyme, resulting in a range of metabolic disorders. These disorders are often characterized by developmental delay, epilepsy, lactic acidosis, and cardiomyopathy, among other symptoms. Early diagnosis through genetic testing is crucial for managing symptoms and improving the quality of life for affected individuals.

The genetic test for ECHS1 gene mitochondrial short-chain enoyl-CoA hydratase 1 deficiency is a specialized diagnostic tool designed to detect mutations in the ECHS1 gene. This test is vital for confirming the diagnosis, understanding the disease’s progression, and guiding treatment options. It involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in a laboratory to identify any mutations in the ECHS1 gene.

In the UAE, this specific genetic test is available at DNA Labs UAE, a leading provider of genetic testing services in the region. The cost of the test is set at 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experts in the field of genetic testing, ensuring accurate and reliable results. This test is an important resource for families and individuals at risk of or showing symptoms of ECHS1 deficiency, providing them with essential information for managing the condition.

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ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Genetic Test

Test Name: ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Genetic Test

Components: Price – 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.

Test Details

The ECHS1 gene encodes for the mitochondrial enzyme called short-chain enoyl-CoA hydratase 1. Deficiency in this enzyme is associated with a rare genetic disorder known as ECHS1 deficiency. This disorder is characterized by a range of symptoms that typically appear in infancy or early childhood. These symptoms can include developmental delay, muscle weakness, seizures, movement disorders, vision problems, and hearing loss. In some cases, individuals with ECHS1 deficiency may also have episodes of metabolic crisis, which can be life-threatening.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of ECHS1 deficiency, NGS testing can be used to identify mutations or variations in the ECHS1 gene that may be responsible for the disorder. By identifying these genetic changes, NGS testing can help in confirming a diagnosis of ECHS1 deficiency and in providing information about the specific genetic variant involved. This information can be important for understanding the inheritance pattern of the disorder and for providing appropriate genetic counseling to affected individuals and their families.

NGS genetic testing for ECHS1 deficiency may be recommended for individuals with suspected symptoms of the disorder or for individuals with a family history of the condition. It is typically performed on a blood or saliva sample, and the results are interpreted by genetic specialists or genetic counselors.

Test Name ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Test Details

The ECHS1 gene encodes for the mitochondrial enzyme called short-chain enoyl-CoA hydratase 1. Deficiency in this enzyme is associated with a rare genetic disorder known as ECHS1 deficiency.

This disorder is characterized by a range of symptoms that typically appear in infancy or early childhood. These symptoms can include developmental delay, muscle weakness, seizures, movement disorders, vision problems, and hearing loss. In some cases, individuals with ECHS1 deficiency may also have episodes of metabolic crisis, which can be life-threatening.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of ECHS1 deficiency, NGS testing can be used to identify mutations or variations in the ECHS1 gene that may be responsible for the disorder.

By identifying these genetic changes, NGS testing can help in confirming a diagnosis of ECHS1 deficiency and in providing information about the specific genetic variant involved. This information can be important for understanding the inheritance pattern of the disorder and for providing appropriate genetic counseling to affected individuals and their families.

NGS genetic testing for ECHS1 deficiency may be recommended for individuals with suspected symptoms of the disorder or for individuals with a family history of the condition. It is typically performed on a blood or saliva sample, and the results are interpreted by genetic specialists or genetic counselors.

SKU: TEST-1735 Category:

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