BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test sale cost 4400 AED
PDHX Gene Lacticacidemia Due to PDX1 Deficiency Genetic Test sale cost 4400 AED PDHX Gene Lacticacidemia Due to PDX1 Deficiency Genetic Test Cost 5,600 د.إ Original price was: 5,600 د.إ.4,400 د.إCurrent price is: 4,400 د.إ.
ABCD4 Gene Methylmalonic Aciduria CblJ Type Genetic Test sale cost 4400 AED ABCD4 Gene Methylmalonic Aciduria CblJ Type Genetic Test Cost 5,600 د.إ Original price was: 5,600 د.إ.4,400 د.إCurrent price is: 4,400 د.إ.
Sale!

BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test Cost

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

-21%

The BCKDHB gene maple syrup urine disease type 1b genetic test is a specialized diagnostic procedure aimed at identifying mutations in the BCKDHB gene, which are responsible for causing maple syrup urine disease (MSUD) type 1b. MSUD is a rare inherited metabolic disorder characterized by the body’s inability to properly process certain amino acids, leading to a distinctive sweet-smelling urine, similar to maple syrup, along with potentially severe neurological complications if left untreated.

This genetic test is crucial for early detection and management of the condition, allowing for tailored dietary and medical interventions that can significantly improve outcomes and quality of life for affected individuals. Conducted by DNA Labs UAE, a leading facility in genetic diagnostics, the test provides a comprehensive analysis of the BCKDHB gene to identify disease-causing mutations.

The cost of the BCKDHB gene maple syrup urine disease type 1b genetic test is 4400 AED. While the price may seem high, the test’s value in facilitating early and accurate diagnosis cannot be overstated, potentially preventing life-threatening complications and enabling affected individuals to lead healthier lives.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
Guaranteed Safe Checkout

BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test

At DNA Labs UAE, we offer the BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test. This test is designed to detect mutations in the BCKDHB gene, which is responsible for producing an enzyme called branched-chain ketoacid dehydrogenase (BCKDH). Mutations in this gene can lead to a condition known as Maple Syrup Urine Disease Type 1b (MSUD 1B).

Symptoms and Diagnosis

MSUD 1B is an inherited metabolic disorder that affects the body’s ability to break down certain amino acids, such as leucine, isoleucine, and valine. As a result, these amino acids and their byproducts accumulate in the body, leading to a buildup of toxic substances. Common symptoms of MSUD 1B include urine that smells like maple syrup, poor feeding, vomiting, and developmental delays.

Diagnosing MSUD 1B involves genetic testing using Next-Generation Sequencing (NGS) technology. This test involves sequencing the DNA of an individual to identify any genetic changes or mutations in the BCKDHB gene that may be associated with MSUD 1B. The test can also provide information about the severity of the condition, potential complications, and guide treatment options.

Test Details

The BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test is performed using NGS technology. The cost of the test is AED 4400.0. The sample required for testing can be either blood, extracted DNA, or one drop of blood on an FTA card. The report delivery time is typically 3 to 4 weeks.

This test falls under the category of metabolic disorders and is conducted by our team of genetics experts in the Genetics department. It is recommended to consult with a General Physician or a genetic counselor before undergoing the test.

Pre-Test Information

Prior to undergoing the BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by Maple Syrup Urine Disease Type 1b. This information helps in better understanding the patient’s condition and family history.

Carrier Testing

In individuals with a family history of MSUD 1B, the BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test can also be used for carrier testing. This helps determine the risk of passing on the condition to their children.

At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Our BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test can help diagnose MSUD 1B and provide valuable information for treatment and family planning decisions. Contact us today to schedule an appointment.

Test Name BCKDHB Gene Maple syrup urine disease type 1b 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 BCKDHB Gene Maple syrup urine disease type 1b NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Maple syrup urine disease type 1b
Test Details

The BCKDHB gene is responsible for producing an enzyme called branched-chain ketoacid dehydrogenase (BCKDH), which is involved in breaking down certain amino acids in the body. Mutations in the BCKDHB gene can lead to a condition called maple syrup urine disease type 1B (MSUD 1B).

MSUD 1B is an inherited metabolic disorder characterized by the inability to break down the amino acids leucine, isoleucine, and valine. As a result, these amino acids and their byproducts accumulate in the body, leading to a buildup of toxic substances.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can be used to identify mutations or variations in the BCKDHB gene. This test involves sequencing the DNA of an individual to detect any genetic changes that may be associated with MSUD 1B.

By identifying the specific mutations in the BCKDHB gene, NGS genetic testing can help diagnose MSUD 1B and provide information about the severity of the condition, potential complications, and guide treatment options. It can also be used for carrier testing in individuals with a family history of MSUD 1B to determine their risk of passing on the condition to their children.

SKU: TEST-2512