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NOP10 Gene Dyskeratosis Congenita Autosomal Recessive Type 1 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 3,200 د.إ.

-43%

The NOP10 Gene Dyskeratosis Congenita Autosomal Recessive Type 1 Genetic Test is a specialized diagnostic tool designed to identify mutations in the NOP10 gene, which are linked to Dyskeratosis Congenita, a rare, inherited bone marrow failure syndrome. This condition is characterized by the triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia, along with a range of other potential systemic manifestations. It primarily follows an autosomal recessive inheritance pattern, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to manifest the disease.

The test, available at DNA Labs UAE, is crucial for early diagnosis, which can significantly impact the management and prognosis of the condition. It involves collecting a DNA sample, typically through a blood draw, which is then analyzed for specific mutations in the NOP10 gene. A positive result may confirm the diagnosis of Dyskeratosis Congenita, facilitating appropriate clinical management and genetic counseling for affected individuals and their families.

The cost of the NOP10 Gene Dyskeratosis Congenita Autosomal Recessive Type 1 Genetic Test at DNA Labs UAE is 3200 AED. This investment in health allows for the precise identification of the genetic basis of the condition, which is essential for understanding the disease’s progression, potential complications, and informing decisions regarding surveillance and treatment strategies tailored to the individual’s genetic makeup.

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NOP10 Gene Dyskeratosis Congenita Autosomal Recessive Type 1 Genetic Test

Introduction

Dyskeratosis congenita, autosomal recessive type 1 is a genetic disorder that affects multiple body systems. It is characterized by abnormal skin pigmentation, nail abnormalities, and an increased risk of bone marrow failure, among other symptoms. One of the genes associated with this disorder is the NOP10 gene.

Test Details

The NOP10 gene dyskeratosis congenita autosomal recessive type 1 genetic test is a diagnostic test that uses NGS (Next-Generation Sequencing) technology to analyze the NOP10 gene. This test can identify mutations or variations in the NOP10 gene that may be responsible for the disorder.

Components and Price

The test is priced at 3200.0 AED.

Sample Condition

The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

The test results are typically delivered within 3 to 4 weeks.

Method

The test utilizes NGS technology for analysis.

Test Type

The test falls under the category of Osteology Dermatology Immunology Disorders.

Doctor and Test Department

The test is conducted by a dermatologist and falls under the Genetics department.

Pre Test Information

Prior to the test, a clinical history of the patient going for the NOP10 gene dyskeratosis congenita autosomal recessive type 1 NGS genetic DNA test is required. Additionally, a genetic counseling session is conducted to draw a pedigree chart of family members affected by the disorder.

Conclusion

The NOP10 gene dyskeratosis congenita autosomal recessive type 1 genetic test is an NGS-based diagnostic test that helps confirm a diagnosis of dyskeratosis congenita. It can provide important information about the specific genetic mutation present, which can aid in determining prognosis, managing symptoms, and offering appropriate genetic counseling to affected individuals and their families.

Test Name NOP10 Gene Dyskeratosis congenita autosomal recessive type 1 Genetic Test
Components
Price 3200.0 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 NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic DNA Test gene NOP10
Test Details

The NOP10 gene is associated with a genetic disorder called dyskeratosis congenita, autosomal recessive type 1. This disorder affects multiple body systems and is characterized by abnormal skin pigmentation, nail abnormalities, and an increased risk of bone marrow failure, among other symptoms.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of dyskeratosis congenita, an NGS genetic test can be used to identify mutations or variations in the NOP10 gene that may be responsible for the disorder.

By identifying specific genetic variants in the NOP10 gene, NGS genetic testing can help confirm a diagnosis of dyskeratosis congenita, autosomal recessive type 1. It can also provide important information about the specific genetic mutation present, which can be useful for determining prognosis, managing symptoms, and providing appropriate genetic counseling to affected individuals and their families.

SKU: TEST-2925 Category:

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