PREPL Gene Hypotonia-cystinuria syndrome Genetic Test
Welcome to DNA Labs UAE, where we offer the PREPL Gene Hypotonia-cystinuria syndrome Genetic Test. This test is designed to identify mutations in the PREPL gene, which is responsible for encoding the prolyl endopeptidase-like enzyme. Mutations in this gene can lead to a rare genetic disorder called hypotonia-cystinuria syndrome.
Test Components
- PREPL Gene Hypotonia-cystinuria syndrome 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
Hepatology Nephrology Endocrinology Disorders
Doctor
General Physician
Test Department
Genetics
Pre Test Information
Clinical History of Patient who is going for PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic DNA Test gene PREPL.
Test Details
The PREPL gene is responsible for encoding the prolyl endopeptidase-like enzyme. Mutations in this gene can lead to a rare genetic disorder called hypotonia-cystinuria syndrome. Hypotonia-cystinuria syndrome is characterized by two main symptoms: hypotonia and cystinuria.
Hypotonia refers to abnormally low muscle tone, which can result in muscle weakness and poor coordination. Cystinuria is a condition that affects the kidneys, leading to the abnormal excretion of the amino acid cystine in the urine. This can result in the formation of cystine stones in the urinary tract, which can cause pain and other complications.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of hypotonia-cystinuria syndrome, NGS genetic testing can be used to identify mutations in the PREPL gene, as well as other genes that may be associated with similar symptoms.
NGS genetic testing can provide valuable information for diagnosis, prognosis, and treatment planning for individuals with hypotonia-cystinuria syndrome. It can also be used for carrier testing in family members of affected individuals. It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results.
| Test Name | PREPL Gene Hypotonia-cystinuria 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 | Hepatology Nephrology Endocrinology Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic DNA Test gene PREPL |
| Test Details |
The PREPL gene is responsible for encoding the prolyl endopeptidase-like enzyme. Mutations in this gene can lead to a rare genetic disorder called hypotonia-cystinuria syndrome. Hypotonia-cystinuria syndrome is characterized by two main symptoms: hypotonia and cystinuria. Hypotonia refers to abnormally low muscle tone, which can result in muscle weakness and poor coordination. Cystinuria is a condition that affects the kidneys, leading to the abnormal excretion of the amino acid cystine in the urine. This can result in the formation of cystine stones in the urinary tract, which can cause pain and other complications. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of hypotonia-cystinuria syndrome, NGS genetic testing can be used to identify mutations in the PREPL gene, as well as other genes that may be associated with similar symptoms. NGS genetic testing can provide valuable information for diagnosis, prognosis, and treatment planning for individuals with hypotonia-cystinuria syndrome. It can also be used for carrier testing in family members of affected individuals. It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results. |
