GENODERMATOSES EXOME SEQUENCING PANEL Test
Test Name: GENODERMATOSES EXOME SEQUENCING PANEL Test
Components: >20000 Genes tested
Price: 4400.0 AED
Sample Condition: Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Genodermatoses Exome Sequencing Consent Form (Form 48) is mandatory.
Report Delivery: Sample Daily by 9 am; Report 30 Working days
Method: NGS, Sanger sequencing
Test Type: Genetic Disorders
Doctor: Dermatologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information: Duly filled Genodermatoses Exome Sequencing Consent Form (Form 48) is mandatory.
Test Details
The GENODERMATOSES EXOME SEQUENCING PANEL test is a genetic test that analyzes a patient’s DNA to identify mutations or changes in genes associated with inherited skin disorders. This test uses next-generation sequencing technology to examine all the protein-coding regions of the genome, known as the exome. The exome represents only about 1-2% of the total genome but contains most of the genes responsible for coding proteins.
The test can detect mutations in genes that cause a variety of skin conditions, including but not limited to:
- Epidermolysis Bullosa (EB)
- Ichthyosis
- Neurofibromatosis
- Xeroderma Pigmentosum
- Albinism
- Porphyria
- Incontinentia Pigmenti
- Tuberous Sclerosis
- Ehlers-Danlos Syndrome
- Pachyonychia Congenita
The test is useful in providing a definitive diagnosis for patients with suspected genetic skin disorders, allowing for appropriate management and treatment. It can also be used for carrier testing and prenatal diagnosis for families with a known genetic risk for these conditions.
Test Name | GENODERMATOSES EXOME SEQUENCING PANEL Test |
---|---|
Components | >20000 Genes tested |
Price | 4400.0 AED |
Sample Condition | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Genodermatoses Exome Sequencing Consent Form (Form 48) is mandatory. |
Report Delivery | Sample Daily by 9 am; Report 30 Working days |
Method | NGS, Sanger sequencing |
Test type | Genetic Disorders |
Doctor | Dermatologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Genodermatoses Exome Sequencing Consent Form (Form 48) is mandatory. |
Test Details |
The GENODERMATOSES EXOME SEQUENCING PANEL test is a genetic test that analyzes a patient’s DNA to identify mutations or changes in genes associated with inherited skin disorders. This test uses next-generation sequencing technology to examine all the protein-coding regions of the genome, known as the exome. The exome represents only about 1-2% of the total genome but contains most of the genes responsible for coding proteins. The test can detect mutations in genes that cause a variety of skin conditions, including but not limited to: 1. Epidermolysis Bullosa (EB) 2. Ichthyosis 3. Neurofibromatosis 4. Xeroderma Pigmentosum 5. Albinism 6. Porphyria 7. Incontinentia Pigmenti 8. Tuberous Sclerosis 9. Ehlers-Danlos Syndrome 10. Pachyonychia Congenita The test is useful in providing a definitive diagnosis for patients with suspected genetic skin disorders, allowing for appropriate management and treatment. It can also be used for carrier testing and prenatal diagnosis for families with a known genetic risk for these conditions. |