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CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy Genetic Test

4,400 د.إ

-21%

The “CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy Genetic Test” is a specialized diagnostic assessment offered at DNA Labs UAE. This test is designed to identify mutations in the CTDP1 gene, which are linked to a rare genetic condition characterized by the development of cataracts, distinctive facial dysmorphism, and neuropathy. Individuals with mutations in the CTDP1 gene may present a range of symptoms, including vision impairment due to cataracts, unique facial features that differ from family traits, and various degrees of nerve damage leading to sensory or motor impairments.

The test is conducted through a comprehensive analysis of the patient’s DNA, aiming to provide crucial information for accurate diagnosis, management, and understanding of the condition’s inheritance patterns. It is particularly recommended for individuals showing symptoms of the condition or those with a family history of similar symptoms.

The cost of the CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the genetic testing procedure, analysis, and a detailed report of the findings. Given the complexity and rarity of the condition, this test is a valuable tool for affected individuals and their families to make informed decisions about their health and future.

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CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy Genetic Test

Test Name: CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy Genetic Test

Components: CTDP1 gene

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: Clinical History of Patient who is going for CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy.

Test Details: CTDP1 gene is associated with a rare genetic disorder called Cataracts with Facial Dysmorphism and Neuropathy (CFDN). This disorder is characterized by the development of cataracts, which can cause cloudy or blurred vision, facial dysmorphism, which refers to abnormal facial features, and neuropathy, which is damage to the nerves that can cause weakness, numbness, and pain in the limbs. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the CTDP1 gene that may cause CFDN. This type of testing uses advanced sequencing technology to analyze the DNA sequence of the gene and identify any variations or mutations that may be present. NGS testing for CTDP1 gene mutations can help diagnose CFDN and provide important information for genetic counseling and family planning. It can also be used to identify carriers of the mutation, which can be helpful for family members who may be at risk of passing the disorder on to their children.

Test Name CTDP1 Gene Cataracts with facial dysmorphism and neuropathy 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 CTDP1 Gene Cataracts with facial dysmorphism and neuropathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CTDP1 Gene Cataracts with facial dysmorphism and neuropathy
Test Details

CTDP1 gene is associated with a rare genetic disorder called Cataracts with Facial Dysmorphism and Neuropathy (CFDN). This disorder is characterized by the development of cataracts, which can cause cloudy or blurred vision, facial dysmorphism, which refers to abnormal facial features, and neuropathy, which is damage to the nerves that can cause weakness, numbness, and pain in the limbs.

NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the CTDP1 gene that may cause CFDN. This type of testing uses advanced sequencing technology to analyze the DNA sequence of the gene and identify any variations or mutations that may be present.

NGS testing for CTDP1 gene mutations can help diagnose CFDN and provide important information for genetic counseling and family planning. It can also be used to identify carriers of the mutation, which can be helpful for family members who may be at risk of passing the disorder on to their children.