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SUMF1 Gene Sulfatase deficiency Genetic Test Cost

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

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The SUMF1 gene sulfatase deficiency genetic test is a specialized diagnostic procedure aimed at identifying mutations in the SUMF1 gene, which are associated with Multiple Sulfatase Deficiency (MSD). MSD is a rare genetic disorder that affects numerous bodily systems and leads to a wide range of symptoms, including developmental delays, skeletal abnormalities, and neurological issues. This condition is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene, one from each parent, are necessary for a child to be affected.

The test is conducted through a blood sample, where DNA is extracted and analyzed for specific mutations in the SUMF1 gene that are known to cause the deficiency. It is a critical tool for confirming the diagnosis of MSD, allowing for appropriate management and counseling for affected families.

Performed at DNA Labs UAE, the SUMF1 gene sulfatase deficiency genetic test is priced at 4400 AED. The facility ensures high-quality testing standards, providing reliable results for patients and healthcare providers. This test is essential for early diagnosis and intervention, potentially improving the quality of life for individuals with Multiple Sulfatase Deficiency.

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SUMF1 Gene Sulfatase Deficiency Genetic Test

Components:

  • Test Name: SUMF1 Gene Sulfatase Deficiency Genetic Test
  • 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: Metabolic Disorders
  • Doctor: General Physician
  • Test Department: Genetics

Pre Test Information:

Clinical History of Patient who is going for SUMF1 Gene Sulfatase Deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Sulfatase Deficiency.

Test Details:

The SUMF1 gene encodes an enzyme called sulfatase-modifying factor 1, which is responsible for modifying and activating various sulfatase enzymes. Sulfatase enzymes play a crucial role in breaking down complex molecules called sulfated glycosaminoglycans (GAGs), which are essential for normal development and function of tissues and organs.

Deficiency in the SUMF1 gene can lead to multiple sulfatase deficiency (MSD), a rare genetic disorder characterized by impaired activity of multiple sulfatase enzymes. This deficiency results in the accumulation of sulfated GAGs in various tissues and organs, leading to a wide range of symptoms and progressive deterioration of affected individuals.

NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to identify genetic variations, including mutations, in the SUMF1 gene. This test involves sequencing the entire coding region of the gene to identify any potential pathogenic variants that may be causing the deficiency.

NGS genetic testing for SUMF1 gene sulfatase deficiency can help diagnose individuals with MSD and provide valuable information for genetic counseling, disease management, and potential treatment options. It can also be used for carrier testing in families with a history of MSD to assess the risk of passing on the condition to future generations.

Test Name SUMF1 Gene Sulfatase deficiency 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 Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for SUMF1 Gene Sulfatase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Sulfatase deficiency
Test Details

The SUMF1 gene encodes an enzyme called sulfatase-modifying factor 1, which is responsible for modifying and activating various sulfatase enzymes. Sulfatase enzymes play a crucial role in breaking down complex molecules called sulfated glycosaminoglycans (GAGs), which are essential for normal development and function of tissues and organs.

Deficiency in the SUMF1 gene can lead to multiple sulfatase deficiency (MSD), a rare genetic disorder characterized by impaired activity of multiple sulfatase enzymes. This deficiency results in the accumulation of sulfated GAGs in various tissues and organs, leading to a wide range of symptoms and progressive deterioration of affected individuals.

NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to identify genetic variations, including mutations, in the SUMF1 gene. This test involves sequencing the entire coding region of the gene to identify any potential pathogenic variants that may be causing the deficiency.

NGS genetic testing for SUMF1 gene sulfatase deficiency can help diagnose individuals with MSD and provide valuable information for genetic counseling, disease management, and potential treatment options. It can also be used for carrier testing in families with a history of MSD to assess the risk of passing on the condition to future generations.

SKU: TEST-2628 Category:

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