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PREPL Gene Hypotonia-Cystinuria Syndrome Genetic Test Cost

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

-21%

The PREPL Gene Hypotonia-Cystinuria Syndrome Genetic Test is a specialized diagnostic tool designed to identify mutations in the PREPL gene, which are linked to Hypotonia-Cystinuria Syndrome (HCS). HCS is a rare genetic condition characterized by muscle weakness (hypotonia) and an excess of cystine in the urine (cystinuria), among other symptoms. This syndrome can impact various aspects of health, including growth, kidney function, and muscle tone, making early diagnosis crucial for effective management and treatment.

The test involves analyzing the patient’s DNA to look for specific mutations in the PREPL gene that are known to cause the syndrome. This genetic testing is pivotal for confirming the diagnosis of HCS, enabling healthcare providers to tailor treatment plans according to the individual’s genetic makeup and to offer genetic counseling to the family.

Conducted at DNA Labs UAE, a reputable facility known for its advanced genetic testing capabilities, the test ensures high accuracy and reliability. The cost of the PREPL Gene Hypotonia-Cystinuria Syndrome Genetic Test is 4400 AED, reflecting the intricate processes and sophisticated technology employed in detecting the genetic mutations associated with the syndrome.

By opting for this test at DNA Labs UAE, patients and their families can gain invaluable insights into the genetic underpinnings of Hypotonia-Cystinuria Syndrome, facilitating informed decisions about care and management of the condition.

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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.