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B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 Genetic Test

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

-21%

The B4GALT7 gene plays a critical role in the synthesis of glycosaminoglycans, essential components for the structural integrity and function of connective tissues. Mutations in the B4GALT7 gene are associated with Ehlers-Danlos Syndrome Progeroid Type 1 (EDSP1), a rare genetic disorder characterized by features of premature aging (progeroid features), distinct facial appearance, and various connective tissue abnormalities including skin hyperelasticity and joint hypermobility.

To diagnose this condition, genetic testing is available at DNA Labs UAE. The test specifically looks for mutations in the B4GALT7 gene that are indicative of EDSP1. This testing is crucial for accurate diagnosis, enabling appropriate management and genetic counseling for affected individuals and their families. The cost of the B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 Genetic Test at DNA Labs UAE is 4400 AED. This test is a valuable tool for healthcare professionals and patients alike, offering insights into the genetic basis of the condition and aiding in the development of a tailored care plan.

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B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 Genetic Test

Welcome to DNA Labs UAE, where we offer the B4GALT7 gene Ehlers-Danlos syndrome progeroid type 1 genetic test. This test analyzes the B4GALT7 gene for any mutations or variations that may be present using Next-Generation Sequencing (NGS) technology.

Test Components and Price

  • Components: B4GALT7 Gene Ehlers-Danlos syndrome progeroid type 1 Genetic Test
  • Price: 4400.0 AED

Sample Condition and Report Delivery

  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks

Method and Test Type

  • Method: NGS Technology
  • Test Type: Osteology Dermatology Immunology Disorders

Referring Doctor and Test Department

  • Referring Doctor: Dermatologist
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the B4GALT7 gene Ehlers-Danlos syndrome progeroid type 1 NGS genetic DNA test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with the B4GALT7 gene Ehlers-Danlos syndrome progeroid type 1 NGS genetic DNA test gene B4GALT7.

Test Details

The B4GALT7 gene is associated with a specific type of Ehlers-Danlos syndrome called progeroid type 1. Ehlers-Danlos syndrome is a group of genetic disorders that affect the connective tissues in the body, resulting in symptoms such as joint hypermobility, skin hyperextensibility, and tissue fragility. Progeroid type 1 is a rare subtype of Ehlers-Danlos syndrome characterized by accelerated aging, including premature wrinkling, loss of subcutaneous fat, and osteoporosis.

NGS technology is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire genome. It can detect small genetic variations, such as single nucleotide polymorphisms (SNPs) or small insertions/deletions (indels), as well as larger structural variations. By performing an NGS genetic test on the B4GALT7 gene, healthcare professionals can identify any disease-causing mutations or variations that may be responsible for progeroid type 1 Ehlers-Danlos syndrome. This information can help in confirming a diagnosis, providing appropriate medical management, and offering genetic counseling to affected individuals and their families.

Test Name B4GALT7 Gene Ehlers-Danlos syndrome progeroid type 1 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 B4GALT7 Gene Ehlers-Danlos syndrome, progeroid type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with B4GALT7 Gene Ehlers-Danlos syndrome, progeroid type 1 NGS Genetic DNA Test gene B4GALT7
Test Details

The B4GALT7 gene is associated with a specific type of Ehlers-Danlos syndrome called progeroid type 1. This genetic test, known as Next-Generation Sequencing (NGS), is used to analyze the B4GALT7 gene for any mutations or variations that may be present.

Ehlers-Danlos syndrome is a group of genetic disorders that affect the connective tissues in the body, leading to symptoms such as joint hypermobility, skin hyperextensibility, and tissue fragility. Progeroid type 1 is a rare subtype of Ehlers-Danlos syndrome that is characterized by accelerated aging, including premature wrinkling, loss of subcutaneous fat, and osteoporosis.

NGS is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire genome. It can detect small genetic variations, such as single nucleotide polymorphisms (SNPs) or small insertions/deletions (indels), as well as larger structural variations.

By performing an NGS genetic test on the B4GALT7 gene, healthcare professionals can identify any disease-causing mutations or variations that may be responsible for progeroid type 1 Ehlers-Danlos syndrome. This information can help in confirming a diagnosis, providing appropriate medical management, and offering genetic counseling to affected individuals and their families.

SKU: TEST-2954 Category:

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