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B3GAT3 Gene Multiple Joint Dislocations Short Stature Craniofacial Dysmorphism and Congenital Heart Defects Genetic Test Cost

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

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The B3GAT3 gene plays a critical role in the biosynthesis of glycosaminoglycans, essential components of the extracellular matrix that contribute to the structural integrity of tissues and organs. Mutations in the B3GAT3 gene are associated with a rare genetic disorder characterized by multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects. This condition falls within a group of disorders known as Linkeropathy syndromes due to their association with defects in the glycosaminoglycan linkage region.

To diagnose this condition accurately, genetic testing is crucial. DNA Labs UAE offers a specialized genetic test designed to detect mutations in the B3GAT3 gene. This test is instrumental in confirming the diagnosis, enabling targeted clinical management, and providing valuable information for genetic counseling. The test cost is 4400 AED, reflecting the specialized analysis and the comprehensive insights it provides into this complex condition.

By opting for this test at DNA Labs UAE, patients and healthcare providers can expect a high level of accuracy and reliability, supported by the lab’s expertise in genetic diagnostics. The results from this test can guide treatment decisions, inform about potential complications, and help in understanding the risk of recurrence in future pregnancies.

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B3GAT3 Gene Multiple Joint Dislocations Short Stature Craniofacial Dysmorphism and Congenital Heart Defects Genetic Test

Welcome to the DNA Labs UAE blog! In this article, we will discuss the B3GAT3 gene and its association with a rare genetic disorder characterized by multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD).

Symptoms

Individuals with JDSSDHD may experience the following symptoms:

  1. Multiple joint dislocations: Frequent and recurring joint dislocations, particularly in the shoulders, elbows, hips, and knees, leading to joint instability and mobility difficulties.
  2. Short stature: Individuals with JDSSDHD typically have a shorter stature than average, often falling below the 3rd percentile on growth charts.
  3. Craniofacial dysmorphism: Craniofacial features associated with JDSSDHD include a prominent forehead, wide nasal bridge, widely spaced eyes (hypertelorism), low-set ears, a small chin, and a flattened midface.
  4. Congenital heart defects: JDSSDHD is also associated with various heart abnormalities present at birth, such as atrial septal defects, ventricular septal defects, or abnormalities in the heart valves.

Diagnosis

To diagnose JDSSDHD, DNA Labs UAE offers a genetic test specifically targeting the B3GAT3 gene. The test components include:

  • Test Name: B3GAT3 Gene Multiple Joint Dislocations Short Stature Craniofacial Dysmorphism and Congenital Heart Defects 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 (Next-Generation Sequencing)
  • Test Type: Dysmorphology
  • Doctor: Pediatrics
  • Test Department: Genetics
  • Pre Test Information: Clinical History of Patient who is going for B3GAT3 Gene Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with B3GAT3 Gene Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects NGS Genetic DNA Test gene B3GAT3

Test Details

The B3GAT3 gene is associated with the rare genetic disorder JDSSDHD. NGS genetic testing can be used to identify mutations or variations in the B3GAT3 gene responsible for JDSSDHD. This type of testing involves sequencing the individual’s DNA to detect any changes in the gene sequence that may be causing the disorder. The test results can confirm the diagnosis and provide valuable information for genetic counseling, family planning, and potential treatment options.

Thank you for reading our blog post about the B3GAT3 gene and its association with multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects. If you have any questions or would like to schedule a genetic test, please contact DNA Labs UAE.

Test Name B3GAT3 Gene Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects 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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NGS Genetic DNA Test gene B3GAT3
Test Details

The B3GAT3 gene is associated with a rare genetic disorder known as multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD). This disorder is characterized by various symptoms including:

1. Multiple joint dislocations: Individuals with JDSSDHD may experience frequent and recurring joint dislocations, particularly in the shoulders, elbows, hips, and knees. This can lead to joint instability and difficulties with mobility.

2. Short stature: People with JDSSDHD typically have a shorter stature than average, often falling below the 3rd percentile on growth charts. The exact mechanism behind this growth impairment is not fully understood.

3. Craniofacial dysmorphism: Craniofacial features associated with JDSSDHD can include a prominent forehead, a wide nasal bridge, widely spaced eyes (hypertelorism), low-set ears, a small chin, and a flattened midface. These facial characteristics can vary in severity among affected individuals.

4. Congenital heart defects: JDSSDHD is also associated with various heart abnormalities that are present at birth. These can include defects in the structure or function of the heart, such as atrial septal defects, ventricular septal defects, or abnormalities in the heart valves.

NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations or variations in the B3GAT3 gene that are responsible for JDSSDHD. This type of testing involves sequencing the individual’s DNA to detect any changes in the gene sequence that may be causing the disorder. This can help confirm the diagnosis and provide valuable information for genetic counseling, family planning, and potential treatment options.

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