MLPH Gene Griscelli Syndrome Type 3 Genetic Test
At DNA Labs UAE, we offer the MLPH Gene Griscelli Syndrome Type 3 Genetic Test at a cost of AED 4400.0.
Test Details
The MLPH (Melanophilin) gene is associated with a rare genetic disorder known as Griscelli Syndrome Type 3. This syndrome is characterized by pigmentary dilution of the skin and hair, along with immunodeficiency and neurological abnormalities.
Our Next-Generation Sequencing (NGS) technology allows for the analysis of the MLPH gene to identify any disease-causing mutations or variations. NGS genetic testing is a high-throughput sequencing method that enables the simultaneous sequencing of multiple genes or even the entire genome.
The MLPH gene provides instructions for producing a protein called melanophilin, which plays a role in the transport of pigment-producing organelles called melanosomes within cells. Mutations in the MLPH gene can disrupt the normal functioning of melanophilin, leading to the symptoms of Griscelli Syndrome Type 3.
Test Components
- Price: AED 4400.0
- 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 and Test Department
This test is conducted by our Dermatologist and falls under the Genetics department.
Pre Test Information
Prior to the MLPH Gene Griscelli Syndrome Type 3 NGS Genetic DNA Test, we recommend obtaining the clinical history of the patient. Additionally, a Genetic Counselling session is conducted to draw a pedigree chart of family members affected by the MLPH Gene Griscelli Syndrome Type 3 NGS Genetic DNA Test gene MLPH.
Interpreting the Test Results
It is important to note that genetic testing for Griscelli Syndrome Type 3 should be performed by a qualified healthcare professional or a specialized genetic testing laboratory. The results of the test should be interpreted in conjunction with the individual’s clinical symptoms and family history.
Genetic counseling is highly recommended to discuss the implications of the test results and provide appropriate guidance and support.
| Test Name | MLPH Gene Griscelli syndrome type 3 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 MLPH Gene Griscelli syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MLPH Gene Griscelli syndrome type 3 NGS Genetic DNA Test gene MLPH |
| Test Details |
MLPH (Melanophilin) gene is associated with a rare genetic disorder called Griscelli syndrome type 3. Griscelli syndrome is a group of autosomal recessive disorders characterized by pigmentary dilution of the skin and hair, along with immunodeficiency and neurological abnormalities. NGS (Next-Generation Sequencing) genetic testing refers to a high-throughput sequencing method that allows simultaneous sequencing of multiple genes or even the entire genome. In the context of Griscelli syndrome type 3, NGS genetic testing can be used to analyze the MLPH gene for any disease-causing mutations or variations. The MLPH gene provides instructions for producing a protein called melanophilin, which is involved in the transport of pigment-producing organelles called melanosomes within cells. Mutations in the MLPH gene can disrupt the normal functioning of melanophilin, leading to pigmentary dilution and other symptoms of Griscelli syndrome type 3. NGS genetic testing for MLPH gene mutations can help in confirming a diagnosis of Griscelli syndrome type 3 in individuals with suspected symptoms. It can also be useful for genetic counseling and family planning purposes. The test involves obtaining a DNA sample, typically through a blood sample, and sequencing the MLPH gene to identify any disease-causing mutations or variations. It is important to note that genetic testing for Griscelli syndrome type 3 should be performed by a qualified healthcare professional or a specialized genetic testing laboratory. The results of the test should be interpreted in conjunction with the individual’s clinical symptoms and family history. Genetic counseling is recommended to discuss the implications of the test results and provide appropriate guidance and support. |
