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IDH1 Gene Metaphyseal Chondromatosis with Increased Urinary Excretion of D-2-Hydroxyglutarate Genetic Test Cost

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

-21%

The “IDH1 Gene Metaphyseal Chondromatosis with Increased Urinary Excretion of D-2-Hydroxyglutarate Genetic Test” is a specialized diagnostic procedure available at DNA Labs UAE. This test is specifically designed to identify mutations in the IDH1 gene, which are implicated in the development of metaphyseal chondromatosis, a rare skeletal disorder characterized by abnormal bone growth. Additionally, mutations in the IDH1 gene can lead to increased levels of D-2-hydroxyglutarate in the urine, a metabolic anomaly associated with certain types of metabolic disorders and neoplasms.

The test involves analyzing the patient’s DNA to detect any genetic alterations in the IDH1 gene that could be responsible for the clinical manifestations of metaphyseal chondromatosis and the altered metabolic profile. This genetic testing is crucial for accurate diagnosis, allowing for tailored treatment plans and management strategies for affected individuals.

The cost of the test is 4400 AED, reflecting the specialized nature of the analysis and the expertise required to interpret the results accurately. Conducted at DNA Labs UAE, a facility known for its advanced genetic testing services, patients can expect high standards of accuracy and reliability in their test results, alongside professional genetic counseling services to understand the implications of the findings.

Home  Sample collection service available

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  • This test is not intended for medical diagnosis or treatment
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IDH1 Gene Metaphyseal Chondromatosis Genetic Test

Welcome to DNA Labs UAE, a leading genetic lab offering the IDH1 Gene Metaphyseal Chondromatosis Genetic Test. This test is designed to diagnose and manage the rare genetic disorder known as metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate (MC-HGA).

Test Details

The IDH1 gene is responsible for encoding the enzyme isocitrate dehydrogenase 1, which plays a crucial role in the metabolism of isocitrate to alpha-ketoglutarate in the citric acid cycle. Mutations in the IDH1 gene have been linked to various diseases, including MC-HGA.

MC-HGA is characterized by abnormal cartilage development in the long bones, resulting in short stature and skeletal abnormalities. Individuals with MC-HGA also have an increased excretion of D-2-hydroxyglutarate (D-2-HG) in their urine. D-2-HG is an abnormal metabolite that accumulates due to the dysfunction of the IDH1 enzyme.

Our IDH1 Gene Metaphyseal Chondromatosis Genetic Test utilizes NGS (Next-Generation Sequencing) technology, allowing for the simultaneous analysis of multiple genes for mutations or variations. This comprehensive approach enables accurate identification of mutations in the IDH1 gene associated with MC-HGA.

Test Components and Pricing

Test Name: IDH1 Gene Metaphyseal Chondromatosis with Increased Urinary Excretion of D-2-hydroxyglutarate Genetic Test

  • 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: Osteology Dermatology Immunology Disorders

Referring Doctor and Test Department

Referring Doctor: Dermatologist

Test Department: Genetics

Pre Test Information

Prior to undergoing the IDH1 Gene Metaphyseal Chondromatosis Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by MC-HGA. This information helps in the interpretation of test results and provides valuable guidance.

Please note that genetic testing should always be performed by a qualified healthcare professional or genetic counselor who can accurately interpret the results and provide appropriate counseling and guidance.

Test Name IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate 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 Osteology Dermatology Immunology Disorders
Doctor Dermatologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic DNA Test gene IDH1
Test Details

The IDH1 gene is a gene that encodes for the enzyme isocitrate dehydrogenase 1, which is involved in the metabolism of isocitrate to alpha-ketoglutarate in the citric acid cycle. Mutations in the IDH1 gene have been associated with various diseases, including metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate (MC-HGA).

MC-HGA is a rare genetic disorder characterized by abnormal cartilage development in the long bones, resulting in short stature and skeletal abnormalities. Additionally, individuals with MC-HGA have an increased excretion of D-2-hydroxyglutarate (D-2-HG) in their urine. D-2-HG is an abnormal metabolite that accumulates due to the dysfunction of the IDH1 enzyme.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for mutations or variations. In the case of MC-HGA, NGS genetic testing can be used to identify mutations in the IDH1 gene that are responsible for the disease. This type of testing allows for a more comprehensive analysis of the genetic information and can help in the diagnosis and management of MC-HGA.

It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance.

SKU: TEST-3145 Category:

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