NSDHL Gene CHILD syndrome Genetic Test
Welcome to DNA Labs UAE, where we offer the NSDHL Gene CHILD syndrome Genetic Test. This test is used to diagnose and identify mutations in the NSDHL gene associated with CHILD syndrome.
Test Components
The NSDHL Gene CHILD syndrome Genetic Test includes:
- 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
Test Price
The cost of the NSDHL Gene CHILD syndrome Genetic Test is 4400.0 AED.
Test Details
The NSDHL gene is responsible for encoding the enzyme 3beta-hydroxysteroid-delta-7-reductase, which plays a crucial role in the production of cholesterol and other sterols. Mutations in this gene can lead to a rare genetic disorder known as CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects).
CHILD syndrome is characterized by the presence of unilateral skin lesions that are red and scaly, as well as limb abnormalities such as underdevelopment or absence of fingers, toes, or limbs. The severity of the symptoms can vary widely between individuals.
NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the NSDHL gene associated with CHILD syndrome. This type of testing involves analyzing the entire gene sequence to identify any variations or abnormalities that may be causing the disorder.
Genetic testing can be helpful in confirming a diagnosis of CHILD syndrome, as well as providing information about the specific genetic mutation involved. This information can be used to guide treatment and management strategies, as well as to inform genetic counseling and family planning decisions.
Pre Test Information
Prior to undergoing the NSDHL Gene CHILD syndrome Genetic Test, it is important to provide the clinical history of the patient who is going for the test. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with NSDHL Gene CHILD syndrome.
| Test Name | NSDHL Gene CHILD syndrome 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 NSDHL Gene CHILD syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NSDHL Gene CHILD syndrome |
| Test Details | The NSDHL gene is responsible for encoding the enzyme 3beta-hydroxysteroid-delta-7-reductase, which plays a crucial role in the production of cholesterol and other sterols. Mutations in this gene can lead to a rare genetic disorder known as CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects). CHILD syndrome is characterized by the presence of unilateral skin lesions that are red and scaly, as well as limb abnormalities such as underdevelopment or absence of fingers, toes, or limbs. The severity of the symptoms can vary widely between individuals. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the NSDHL gene associated with CHILD syndrome. This type of testing involves analyzing the entire gene sequence to identify any variations or abnormalities that may be causing the disorder. Genetic testing can be helpful in confirming a diagnosis of CHILD syndrome, as well as providing information about the specific genetic mutation involved. This information can be used to guide treatment and management strategies, as well as to inform genetic counseling and family planning decisions. |
