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COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Genetic Test Cost

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

-21%

The COL12A1 gene plays a crucial role in the development and maintenance of muscle tissue. Mutations in this gene are linked to Ullrich Congenital Muscular Dystrophy Type 2, a severe condition characterized by muscle weakness, joint hypermobility, and skin abnormalities. This genetic disorder is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

DNA Labs UAE offers a specialized genetic test to identify mutations in the COL12A1 gene, aiding in the diagnosis of Ullrich Congenital Muscular Dystrophy Type 2. This test is vital for affected individuals and their families, as it can provide crucial information for managing the condition, understanding the risk of recurrence in future pregnancies, and exploring potential treatment options.

The test is priced at 4400 AED and involves collecting a DNA sample, typically through a blood draw or a cheek swab. The sample is then analyzed in the laboratory to detect any mutations in the COL12A1 gene. Results from this test can help guide clinical management and genetic counseling for families affected by this condition.

It’s important for individuals considering this test to consult with a healthcare provider or a genetic counselor to understand the implications of the results and to ensure comprehensive support throughout the testing process.

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COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Genetic Test

At DNA Labs UAE, we offer the COL12A1 Gene Ullrich congenital muscular dystrophy type 2 genetic test. This test helps in diagnosing and understanding the symptoms of this rare genetic disorder. Here are the details of the test:

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

Prior to the COL12A1 Gene Ullrich congenital muscular dystrophy type 2 NGS Genetic DNA 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 the disorder.

Test Details

The COL12A1 gene is responsible for the production of collagen alpha-1(XII) chain, which plays a crucial role in the formation of collagen fibers in connective tissues. Mutations in this gene can lead to Ullrich congenital muscular dystrophy type 2 (UCMD2), a rare genetic disorder characterized by muscle weakness and joint stiffness.

NGS (Next-Generation Sequencing) genetic testing is a cutting-edge DNA sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire genome. In the context of UCMD2, NGS genetic testing can identify mutations or variations in the COL12A1 gene that may be responsible for the condition.

By analyzing the patient’s DNA sample, NGS can provide valuable information about specific genetic changes in the COL12A1 gene, aiding in the confirmation of a UCMD2 diagnosis. This test is particularly useful for individuals with atypical or unclear symptoms, as well as for genetic counseling and family planning purposes.

It is important to note that NGS genetic testing requires a healthcare provider’s order, and the results should be interpreted by a geneticist or genetic counselor who can provide appropriate guidance and support.

Test Name COL12A1 Gene Ullrich congenital muscular dystrophy type 2 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 COL12A1 Gene Ullrich congenital muscular dystrophy type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL12A1 Gene Ullrich congenital muscular dystrophy type 2
Test Details

The COL12A1 gene is responsible for providing instructions for making a protein called collagen alpha-1(XII) chain, which is involved in the formation of collagen fibers in connective tissues. Mutations in the COL12A1 gene can lead to Ullrich congenital muscular dystrophy type 2 (UCMD2), which is a rare genetic disorder characterized by muscle weakness and joint stiffness.

NGS (Next-Generation Sequencing) genetic testing is a type of DNA sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire genome. In the context of UCMD2, NGS genetic testing can be used to identify mutations or variations in the COL12A1 gene that may be responsible for the condition.

By analyzing the patient’s DNA sample, NGS can provide information about specific genetic changes that may be present in the COL12A1 gene, helping to confirm a diagnosis of UCMD2. This can be particularly useful for individuals with atypical or unclear symptoms, as well as for genetic counseling and family planning purposes.

It’s important to note that NGS genetic testing typically requires a healthcare provider’s order, and the results should be interpreted by a geneticist or genetic counselor who can provide appropriate guidance and support.

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