Nx GEN SEQUENCING ALBINISM Test
Test Name: Nx GEN SEQUENCING ALBINISM Test
Components: AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1
Price: 5730.0 AED
Sample Condition: Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Report Delivery: Sample Daily by 9 am; Report 45 Working days
Method: NGS, Sanger sequencing
Test Type: Albinism
Doctor: Ophthalmologist, Dermatologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Test Details
Albinism is a genetic condition that affects the production of melanin, the pigment that gives color to the skin, hair, and eyes. It is caused by mutations in one of several genes involved in melanin production.
Nx Gen sequencing is a high-throughput DNA sequencing technology that can be used to identify mutations in these genes. The test involves extracting DNA from a sample of the patient’s blood or tissue, and then amplifying and sequencing the relevant genes.
The results of the test can help diagnose albinism and determine the specific genetic mutation causing the condition. This information can be used to provide genetic counseling to the patient and their family members, and may also be useful in developing targeted therapies for the condition.
Test Name | Nx GEN SEQUENCING ALBINISM Test |
---|---|
Components | AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1 |
Price | 5730.0 AED |
Sample Condition | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Report Delivery | Sample Daily by 9 am; Report 45 Working days |
Method | NGS, Sanger sequencing |
Test type | Albinism |
Doctor | Ophthalmologist, Dermatologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test Details | Albinism is a genetic condition that affects the production of melanin, the pigment that gives color to the skin, hair, and eyes. It is caused by mutations in one of several genes involved in melanin production. Nx Gen sequencing is a high-throughput DNA sequencing technology that can be used to identify mutations in these genes. The test involves extracting DNA from a sample of the patient’s blood or tissue, and then amplifying and sequencing the relevant genes. The results of the test can help diagnose albinism and determine the specific genetic mutation causing the condition. This information can be used to provide genetic counseling to the patient and their family members, and may also be useful in developing targeted therapies for the condition. |