Nx GEN SEQUENCING RETINITIS PIGMENTOSA Test
Test Name: Nx GEN SEQUENCING RETINITIS PIGMENTOSA Test
Components: ABCA4, ARL6, BBS1, BEST1, CA4, CRX, CLRN1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, GNPTG, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513
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: Retinitis pigmentosa
Doctor: Ophthalmologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Test Details
Retinitis pigmentosa (RP) is a group of genetic disorders that affect the retina, leading to progressive vision loss. Nx Gen sequencing can be used to diagnose RP by identifying mutations in genes associated with the condition. The test involves sequencing the DNA of the patient to identify any mutations in genes known to be associated with RP. This includes genes such as RHO, RPGR, and USH2A, among others.
Once the mutations are identified, the results can be used to confirm a diagnosis of RP and to provide information about the specific genetic subtype of the condition. This information can be used to guide treatment decisions and to provide information about the risk of passing the condition on to future generations.
Overall, Nx Gen sequencing is a powerful tool for diagnosing RP and other genetic conditions, providing valuable information for patients and their families.
Test Name | Nx GEN SEQUENCING RETINITIS PIGMENTOSA Test |
---|---|
Components | ABCA4, ARL6, BBS1, BEST1, CA4, CRX, CLRN1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, GNPTG, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513 |
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 | Retinitis pigmentosa |
Doctor | Ophthalmologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test Details | Retinitis pigmentosa (RP) is a group of genetic disorders that affect the retina, leading to progressive vision loss. Nx Gen sequencing can be used to diagnose RP by identifying mutations in genes associated with the condition. The test involves sequencing the DNA of the patient to identify any mutations in genes known to be associated with RP. This includes genes such as RHO, RPGR, and USH2A, among others. Once the mutations are identified, the results can be used to confirm a diagnosis of RP and to provide information about the specific genetic subtype of the condition. This information can be used to guide treatment decisions and to provide information about the risk of passing the condition on to future generations. Overall, Nx Gen sequencing is a powerful tool for diagnosing RP and other genetic conditions, providing valuable information for patients and their families. |