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CTSC Gene Haim-Munk syndrome Genetic Test

Name: CTSC Gene Haim-Munk syndrome Genetic Test
SKU: TEST-3011
Price: 4400 AED
Availability: InStock

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

-21%

The CTSC Gene Haim-Munk Syndrome Genetic Test is a specialized diagnostic procedure designed to identify mutations in the CTSC gene, which are responsible for Haim-Munk syndrome. This rare autosomal recessive disorder is characterized by a constellation of symptoms including palmoplantar keratoderma, severe periodontitis, arachnodactyly, and acroosteolysis. The genetic test involves analyzing the patient’s DNA to detect mutations in the CTSC gene, providing crucial information for accurate diagnosis and management of the condition.

Conducted at DNA Labs UAE, a leading facility in genetic testing, this test offers a comprehensive analysis leveraging advanced genomic technologies to ensure high accuracy and reliability. The cost of the CTSC Gene Haim-Munk Syndrome Genetic Test is set at 4400 AED, reflecting the intricate processes and expertise required to perform this sophisticated examination. By opting for this test, patients and healthcare providers can gain valuable insights into the genetic basis of Haim-Munk syndrome, facilitating tailored treatment strategies and genetic counseling for affected individuals and their families.

Description

CTSC Gene Haim-Munk Syndrome Genetic Test

Test Name: CTSC Gene Haim-Munk Syndrome Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: 4400.0 AED

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 CTSC Gene Haim-Munk Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CTSC Gene Haim-Munk Syndrome NGS Genetic DNA Test gene CTSC.

Test Details:

CTSC Gene Haim-Munk Syndrome NGS Genetic Test is a genetic test that analyzes the CTSC gene for mutations associated with Haim-Munk Syndrome. Haim-Munk Syndrome is a rare autosomal recessive disorder characterized by palmoplantar keratoderma (thickening of the skin on the palms and soles), severe periodontitis (inflammation and loss of the tissues surrounding the teeth), and other symptoms such as acro-osteolysis (resorption of the bones in the hands and feet) and onychogryphosis (abnormal nail growth).

The NGS (Next-Generation Sequencing) genetic test is a high-throughput sequencing method that can analyze multiple genes simultaneously, providing a comprehensive analysis of the CTSC gene. This test can detect mutations, deletions, or duplications in the CTSC gene that may be responsible for Haim-Munk Syndrome.

The CTSC gene encodes the enzyme cathepsin C, which plays a role in the immune response and the breakdown of proteins. Mutations in the CTSC gene can lead to a loss of enzyme function, causing the symptoms associated with Haim-Munk Syndrome.

The NGS genetic test for CTSC gene mutations can help in the diagnosis of Haim-Munk Syndrome, allowing for early intervention and management of the condition. It can also be used for carrier testing in individuals with a family history of the disorder.

It is important to note that genetic testing should be performed and interpreted by healthcare professionals trained in genetics, as the results may have implications for the individual and their family members. Genetic counseling is often recommended before and after genetic testing to discuss the benefits, limitations, and potential consequences of the test.

Test Name	CTSC Gene Haim-Munk syndrome 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	Osteology Dermatology Immunology Disorders
Doctor	Dermatologist
Test Department:	Genetics
Pre Test Information	Clinical History of Patient who is going for CTSC Gene Haim-Munk syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CTSC Gene Haim-Munk syndrome NGS Genetic DNA Test gene CTSC
Test Details	CTSC Gene Haim-Munk syndrome NGS Genetic Test is a genetic test that analyzes the CTSC gene for mutations associated with Haim-Munk syndrome. Haim-Munk syndrome is a rare autosomal recessive disorder characterized by palmoplantar keratoderma (thickening of the skin on the palms and soles), severe periodontitis (inflammation and loss of the tissues surrounding the teeth), and other symptoms such as acro-osteolysis (resorption of the bones in the hands and feet) and onychogryphosis (abnormal nail growth). The NGS (Next-Generation Sequencing) genetic test is a high-throughput sequencing method that can analyze multiple genes simultaneously, providing a comprehensive analysis of the CTSC gene. This test can detect mutations, deletions, or duplications in the CTSC gene that may be responsible for Haim-Munk syndrome. The CTSC gene encodes the enzyme cathepsin C, which plays a role in the immune response and the breakdown of proteins. Mutations in the CTSC gene can lead to a loss of enzyme function, causing the symptoms associated with Haim-Munk syndrome. The NGS genetic test for CTSC gene mutations can help in the diagnosis of Haim-Munk syndrome, allowing for early intervention and management of the condition. It can also be used for carrier testing in individuals with a family history of the disorder. It is important to note that genetic testing should be performed and interpreted by healthcare professionals trained in genetics, as the results may have implications for the individual and their family members. Genetic counseling is often recommended before and after genetic testing to discuss the benefits, limitations, and potential consequences of the test.