PARN Gene Dyskeratosis Congenita Autosomal Recessive Type 6 Genetic Test
Test Name: PARN Gene Dyskeratosis congenita autosomal recessive type 6 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic DNA Test gene PARN
Test Details: Dyskeratosis congenita (DC) is a rare genetic disorder characterized by a range of symptoms including skin abnormalities, nail dystrophy, bone marrow failure, and an increased risk of developing certain cancers. DC is primarily caused by mutations in genes involved in telomere maintenance, which are the protective caps at the ends of chromosomes. One of the genes associated with DC is the PARN gene, which is involved in telomere maintenance and is associated with autosomal recessive type 6 DC. Autosomal recessive inheritance means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the disorder. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and can be used to identify mutations in the PARN gene. This type of testing allows for a comprehensive analysis of the individual’s genetic information, enabling the identification of specific genetic variants associated with DC. By identifying mutations in the PARN gene through NGS genetic testing, individuals with dyskeratosis congenita can receive an accurate diagnosis, enabling appropriate medical management and genetic counseling for affected individuals and their families.
Test Name | PARN Gene Dyskeratosis congenita autosomal recessive type 6 Genetic Test |
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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 PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic DNA Test gene PARN |
Test Details |
Dyskeratosis congenita (DC) is a rare genetic disorder characterized by a range of symptoms including skin abnormalities, nail dystrophy, bone marrow failure, and an increased risk of developing certain cancers. DC is primarily caused by mutations in genes involved in telomere maintenance, which are the protective caps at the ends of chromosomes. One of the genes associated with DC is the PARN gene, which is involved in telomere maintenance and is associated with autosomal recessive type 6 DC. Autosomal recessive inheritance means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the disorder. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and can be used to identify mutations in the PARN gene. This type of testing allows for a comprehensive analysis of the individual’s genetic information, enabling the identification of specific genetic variants associated with DC. By identifying mutations in the PARN gene through NGS genetic testing, individuals with dyskeratosis congenita can receive an accurate diagnosis, enabling appropriate medical management and genetic counseling for affected individuals and their families. |