ALPL Gene Hypophosphatasia Adult Genetic Test
Are you experiencing symptoms of weak or brittle bones, dental problems, muscle weakness, joint pain, or respiratory difficulties? You may be suffering from ALPL gene hypophosphatasia, a rare genetic disorder characterized by abnormal mineralization of bones and teeth. DNA Labs UAE offers an advanced genetic test to diagnose this condition.
Test Details
The ALPL gene hypophosphatasia adult genetic test is performed using Next-Generation Sequencing (NGS) technology. NGS allows for the simultaneous analysis of multiple genes, including the ALPL gene associated with hypophosphatasia. The purpose of this test is to confirm a diagnosis in individuals with symptoms suggestive of the disorder.
Test Components and Price
The cost of the ALPL gene hypophosphatasia adult genetic test at DNA Labs UAE is AED 4400.0. The test requires a blood or extracted DNA sample, or one drop of blood on an FTA card.
Report Delivery
After sample collection, the report will be delivered within 3 to 4 weeks.
Method
The ALPL gene hypophosphatasia adult genetic test utilizes NGS technology for accurate and efficient sequencing of the ALPL gene.
Test Type
This test falls under the category of metabolic disorders.
Doctor and Test Department
The ALPL gene hypophosphatasia adult genetic test can be ordered by a general physician. The test is conducted in the Genetics department.
Pre Test Information
Prior to the test, it is essential to provide the clinical history of the patient who is going for the ALPL gene hypophosphatasia adult genetic test. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by hypophosphatasia.
About ALPL Gene Hypophosphatasia
ALPL gene hypophosphatasia is a rare genetic disorder caused by mutations in the ALPL gene. This gene provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). TNSALP is responsible for breaking down a molecule called inorganic pyrophosphate, which inhibits mineralization. When the ALPL gene is mutated, abnormal mineralization of bones and teeth occurs, leading to the symptoms associated with hypophosphatasia.
Importance of Genetic Testing
The ALPL gene hypophosphatasia adult genetic test is crucial for confirming the diagnosis of hypophosphatasia and providing information on the severity of the condition. It can also aid in genetic counseling by assessing the risk of passing on the condition to future generations.
It is important to note that genetic testing for ALPL gene hypophosphatasia should be performed by a qualified healthcare professional or genetic counselor. They can provide appropriate guidance and interpretation of the results, as well as discuss the potential implications for the individual and their family.
| Test Name | ALPL Gene Hypophosphatasia adult 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 ALPL Gene Hypophosphatasia, adult NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypophosphatasia, adult |
| Test Details |
ALPL gene hypophosphatasia is a rare genetic disorder characterized by abnormal mineralization of bones and teeth. It is caused by mutations in the ALPL gene, which provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). TNSALP is responsible for breaking down a molecule called inorganic pyrophosphate, which inhibits mineralization. Adult NGS genetic testing refers to Next-Generation Sequencing, a high-throughput DNA sequencing technology that allows the simultaneous analysis of multiple genes. This type of genetic testing can be used to identify mutations in the ALPL gene associated with hypophosphatasia. The purpose of adult NGS genetic testing for ALPL gene hypophosphatasia is to confirm a diagnosis in individuals with symptoms suggestive of the disorder. Symptoms may include weak or brittle bones, dental problems, muscle weakness, joint pain, and respiratory difficulties. The genetic test involves obtaining a blood or saliva sample from the individual, isolating the DNA, and sequencing the ALPL gene. The DNA sequence is then compared to a reference sequence to identify any variations or mutations. Identification of specific mutations in the ALPL gene can help in confirming the diagnosis of hypophosphatasia and providing information on the severity of the condition. It can also aid in genetic counseling, as it allows for the assessment of the risk of passing on the condition to future generations. It is important to note that genetic testing for ALPL gene hypophosphatasia should be performed by a qualified healthcare professional or genetic counselor. They can provide appropriate guidance and interpretation of the results, as well as discuss the potential implications for the individual and their family. |
