BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test
Genetic testing plays a crucial role in diagnosing and managing various genetic disorders. One such disorder is BCKDK deficiency, which is characterized by impaired function of the branched-chain ketoacid dehydrogenase kinase enzyme. This deficiency leads to the accumulation of toxic levels of branched-chain amino acids (BCAAs) in the body.
Test Details
The BCKDK gene, also known as the branched-chain ketoacid dehydrogenase kinase gene, is responsible for producing a protein called branched-chain ketoacid dehydrogenase kinase. This protein is essential for the breakdown of BCAAs, including valine, leucine, and isoleucine.
NGS (Next-Generation Sequencing) genetic testing is a cutting-edge DNA sequencing technology that allows for the rapid and cost-effective analysis of multiple genes simultaneously. In the case of BCKDK deficiency, NGS technology can identify genetic mutations or variations in the BCKDK gene that may be responsible for the disorder.
To perform the genetic test, a DNA sample is required. This can be obtained through a blood sample or cheek swab. The BCKDK gene is then sequenced using NGS technology, and the resulting data is analyzed to identify any mutations or variations associated with BCKDK deficiency.
Test Components and Price
The cost of the BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test is AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card as the sample condition.
Report Delivery and Method
The report for the BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test is typically delivered within 3 to 4 weeks. The test utilizes NGS technology for analysis.
Test Type and Doctor
The BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test falls under the category of Metabolic Disorders. It is recommended to consult a General Physician for this test.
Test Department and Pre Test Information
The BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test is conducted in the Genetics department. Before undergoing the test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session is conducted to draw a pedigree chart of family members affected by BCKDK deficiency.
Symptoms and Diagnosis
BCKDK deficiency can manifest with various symptoms, including developmental delays, intellectual disability, seizures, and metabolic abnormalities. If an individual presents with these symptoms, the BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test can help in diagnosing the disorder.
Uses of Genetic Testing
Genetic testing for BCKDK deficiency serves multiple purposes. It can aid in medical management, treatment, and genetic counseling for affected individuals and their families. Additionally, it can be used for carrier testing in individuals with a family history of BCKDK deficiency or for prenatal testing in families with a known BCKDK gene mutation.
It is important to note that the BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency Genetic Test should be performed by specialized genetic testing laboratories and requires a healthcare provider’s order.
| Test Name | BCKDK Gene Branched-chain ketoacid dehydrogenase kinase 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Branched-chain ketoacid dehydrogenase kinase deficiency |
| Test Details |
BCKDK gene, also known as branched-chain ketoacid dehydrogenase kinase gene, is responsible for the production of a protein called branched-chain ketoacid dehydrogenase kinase. This protein plays a crucial role in the breakdown of amino acids, specifically the branched-chain amino acids (BCAAs) – valine, leucine, and isoleucine. Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDK deficiency) is a rare genetic disorder characterized by the impaired function of the branched-chain ketoacid dehydrogenase kinase enzyme. This leads to the accumulation of toxic levels of BCAAs and their byproducts in the body. NGS (Next-Generation Sequencing) genetic testing is a type of DNA sequencing technology that allows for the rapid and cost-effective analysis of multiple genes simultaneously. It can be used to identify genetic mutations or variations in the BCKDK gene that may be responsible for BCKDK deficiency. NGS genetic testing for BCKDK deficiency involves obtaining a DNA sample, typically through a blood sample or cheek swab, and sequencing the BCKDK gene using NGS technology. The sequencing data is then analyzed to identify any mutations or variations in the gene that may be associated with BCKDK deficiency. This genetic test can help diagnose BCKDK deficiency in individuals with symptoms suggestive of the disorder, such as developmental delays, intellectual disability, seizures, and metabolic abnormalities. It can also be used for carrier testing in individuals with a family history of BCKDK deficiency or for prenatal testing in families with a known BCKDK gene mutation. Genetic testing for BCKDK deficiency can provide valuable information for medical management, treatment, and genetic counseling for affected individuals and their families. It is typically performed by specialized genetic testing laboratories and may require a healthcare provider’s order. |
