PYCR1 Gene Cutis laxa type 2B autosomal recessive Genetic Test
At DNA Labs UAE, we offer the PYCR1 Gene Cutis laxa type 2B autosomal recessive Genetic Test at a cost of AED 4400.0. This test is used to diagnose and identify the specific genetic mutation involved in Cutis laxa type 2B, an autosomal recessive disorder.
Test Components
The test includes the following 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: Dermatologist
- Test Department: Genetics
Pre Test Information
Before undergoing the PYCR1 Gene Cutis laxa type 2B autosomal recessive Genetic Test, it is important to provide the clinical history of the patient. A genetic counseling session will also be conducted to draw a pedigree chart of family members affected with the condition.
Test Details
The PYCR1 gene is associated with Cutis laxa type 2B, an autosomal recessive disorder. This means that an individual needs to inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Cutis laxa is a rare connective tissue disorder characterized by loose and sagging skin. It can also affect other parts of the body, such as the lungs, heart, and blood vessels. Cutis laxa type 2B specifically involves mutations in the PYCR1 gene.
NGS (Next-Generation Sequencing) genetic testing is a high-throughput method that can analyze multiple genes simultaneously. It allows for the detection of genetic variations, including mutations, deletions, or insertions, in a person’s DNA. In the case of Cutis laxa type 2B, an NGS genetic test can be used to identify mutations in the PYCR1 gene, confirming a diagnosis.
Genetic testing for Cutis laxa type 2B can provide valuable information about the specific genetic mutation involved, which can guide treatment and management options. It can also be used for carrier testing in individuals with a family history of the condition, allowing them to make informed decisions about family planning.
| Test Name | PYCR1 Gene Cutis laxa type 2B autosomal recessive 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 PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic DNA Test gene PYCR1 |
| Test Details | The PYCR1 gene is associated with Cutis laxa type 2B, which is an autosomal recessive disorder. Autosomal recessive means that an individual needs to inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Cutis laxa is a rare connective tissue disorder characterized by loose and sagging skin. It can also affect other parts of the body, such as the lungs, heart, and blood vessels. Cutis laxa type 2B specifically involves mutations in the PYCR1 gene. NGS (Next-Generation Sequencing) genetic testing is a high-throughput method that can analyze multiple genes simultaneously. It allows for the detection of genetic variations, including mutations, deletions, or insertions, in a person’s DNA. In the case of Cutis laxa type 2B, an NGS genetic test can be used to identify mutations in the PYCR1 gene, confirming a diagnosis. Genetic testing can be helpful in diagnosing Cutis laxa type 2B, providing information about the specific genetic mutation involved, and guiding treatment and management options. It can also be used for carrier testing in individuals with a family history of the condition, allowing them to make informed decisions about family planning. |
