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RYR1 Gene King-Denborough syndrome Genetic Test

4,400 د.إ

-21%

The RYR1 gene plays a crucial role in skeletal muscle function, and mutations in this gene can lead to King-Denborough Syndrome (KDS), a rare genetic disorder characterized by muscle weakness, skeletal abnormalities, and susceptibility to malignant hyperthermia. The King-Denborough Syndrome Genetic Test is a specialized examination aimed at detecting mutations in the RYR1 gene to confirm a diagnosis of KDS. This test is particularly important for individuals showing symptoms of the syndrome or those with a family history of malignant hyperthermia. Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test ensures precision and reliability in results. The cost of the test is set at 4400 AED, reflecting the intricate technology and expertise required to accurately identify the genetic alterations associated with King-Denborough Syndrome.

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RYR1 Gene King-Denborough syndrome Genetic Test

Test Details

The RYR1 gene is associated with various genetic disorders, including King-Denborough syndrome. King-Denborough syndrome is a rare genetic condition characterized by muscle weakness, skeletal abnormalities, and susceptibility to malignant hyperthermia (a severe reaction to certain medications used during anesthesia).

NGS (Next-Generation Sequencing) genetic testing refers to a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of King-Denborough syndrome, NGS genetic testing can be used to identify mutations or variations in the RYR1 gene that may be responsible for the condition.

NGS genetic testing can provide a more comprehensive analysis of multiple genes, allowing for a more accurate diagnosis compared to traditional genetic testing methods. It can also help in identifying potential carriers of the condition and provide valuable information for family planning and genetic counseling.

If there is a suspicion of King-Denborough syndrome, a healthcare provider may recommend NGS genetic testing to confirm the diagnosis and provide appropriate medical management and treatment options.

Test Name: RYR1 Gene King-Denborough 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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics
  • Pre Test Information: Clinical History of Patient who is going for RYR1 Gene King-Denborough syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RYR1 Gene King-Denborough syndrome
Test Name RYR1 Gene King-Denborough 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 RYR1 Gene King-Denborough syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RYR1 Gene King-Denborough syndrome
Test Details

The RYR1 gene is associated with various genetic disorders, including King-Denborough syndrome. King-Denborough syndrome is a rare genetic condition characterized by muscle weakness, skeletal abnormalities, and susceptibility to malignant hyperthermia (a severe reaction to certain medications used during anesthesia).

NGS (Next-Generation Sequencing) genetic testing refers to a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of King-Denborough syndrome, NGS genetic testing can be used to identify mutations or variations in the RYR1 gene that may be responsible for the condition.

NGS genetic testing can provide a more comprehensive analysis of multiple genes, allowing for a more accurate diagnosis compared to traditional genetic testing methods. It can also help in identifying potential carriers of the condition and provide valuable information for family planning and genetic counseling.

If there is a suspicion of King-Denborough syndrome, a healthcare provider may recommend NGS genetic testing to confirm the diagnosis and provide appropriate medical management and treatment options.