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.  | 

