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DHCR7 Gene Smith-Lemli-Opitz Syndrome Genetic Test

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

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The DHCR7 Gene Smith-Lemli-Opitz Syndrome Genetic Test is a specialized diagnostic tool used to detect mutations in the DHCR7 gene, which are associated with Smith-Lemli-Opitz Syndrome (SLOS). SLOS is a congenital disorder characterized by physical malformations, developmental delay, and intellectual disabilities, resulting from a deficiency in the enzyme 7-dehydrocholesterol reductase. This enzyme plays a crucial role in the biosynthesis of cholesterol in the body.

The test involves analyzing the patient’s DNA to identify any genetic mutations in the DHCR7 gene that may lead to the syndrome. It is a critical step in confirming a diagnosis of SLOS, allowing for early intervention, management of symptoms, and genetic counseling for affected families.

In the UAE, this genetic test is available at DNA Labs UAE, a leading provider of genetic testing services. The cost of the DHCR7 Gene Smith-Lemli-Opitz Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This comprehensive testing service not only provides accurate diagnosis but also offers support and guidance for families navigating the implications of a genetic disorder.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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DHCR7 Gene Smith-Lemli-Opitz Syndrome Genetic Test

Cost: AED 4400.0

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

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Dysmorphology

Doctor: Pediatrics

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test gene DHCR7

Test Details

The DHCR7 gene is associated with Smith-Lemli-Opitz Syndrome (SLOS), a rare genetic disorder characterized by multiple congenital anomalies and intellectual disabilities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously.

In the context of SLOS, NGS genetic testing can be used to identify mutations or variations in the DHCR7 gene that may be responsible for the disorder. By analyzing the DNA sequence of the DHCR7 gene, NGS testing can detect various types of genetic changes, including single nucleotide variants (SNVs), small insertions or deletions (indels), and larger structural variations. This allows for a comprehensive assessment of the genetic variations in the DHCR7 gene that may contribute to the development of SLOS.

NGS genetic testing for SLOS can be performed on a blood or saliva sample. The test results can help confirm a diagnosis of SLOS in individuals with clinical symptoms and can also provide information about the specific mutation or variation in the DHCR7 gene. This information can be useful for genetic counseling, family planning, and potentially guiding treatment options for individuals with SLOS.

Test Name DHCR7 Gene Smith-Lemli-Opitz 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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic DNA Test gene DHCR7
Test Details

The DHCR7 gene is associated with Smith-Lemli-Opitz syndrome (SLOS), a rare genetic disorder characterized by multiple congenital anomalies and intellectual disabilities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously. In the context of SLOS, NGS genetic testing can be used to identify mutations or variations in the DHCR7 gene that may be responsible for the disorder.

By analyzing the DNA sequence of the DHCR7 gene, NGS testing can detect various types of genetic changes, including single nucleotide variants (SNVs), small insertions or deletions (indels), and larger structural variations. This allows for a comprehensive assessment of the genetic variations in the DHCR7 gene that may contribute to the development of SLOS.

NGS genetic testing for SLOS can be performed on a blood or saliva sample. The test results can help confirm a diagnosis of SLOS in individuals with clinical symptoms and can also provide information about the specific mutation or variation in the DHCR7 gene. This information can be useful for genetic counseling, family planning, and potentially guiding treatment options for individuals with SLOS.

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