Nx Gen Sequencing Retinitis Pigmentosa Test
Introduction to the Test
The Nx Gen Sequencing Retinitis Pigmentosa Test is a state-of-the-art diagnostic tool designed to identify genetic mutations associated with retinitis pigmentosa, a hereditary condition leading to progressive vision loss. This test employs advanced Next-Generation Sequencing (NGS) and Sanger sequencing methods to analyze specific genes known to affect retinal function.
What the Test Measures
This test detects mutations in a comprehensive panel of genes linked to retinitis pigmentosa, including:
- 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
Who Should Consider This Test?
This test is recommended for individuals experiencing symptoms of vision loss, particularly those with a family history of retinal diseases. Symptoms may include:
- Difficulty seeing in low light conditions
- Loss of peripheral vision
- Blurred or distorted vision
- Difficulty adjusting to changes in light
Benefits of Taking the Test
The Nx Gen Sequencing Retinitis Pigmentosa Test offers several benefits:
- Accurate diagnosis of genetic causes of vision loss
- Informed decision-making regarding treatment options
- Understanding of inheritance patterns for family planning
- Access to clinical trials and new therapies
Understanding Your Results
Upon completion of the test, results will be provided within 45 working days. A genetic counselor or ophthalmologist will help interpret the findings, explaining the implications for your health and potential next steps.
Test Pricing
Price Type | Amount (KSh) |
---|---|
Discount Price | 40,000 |
Regular Price | 63,700 |
Sample Collection Instructions
Please submit 10 mL (5 mL min.) of whole blood collected in 2 Lavender Top (EDTA) tubes. The sample must be shipped refrigerated and should not be frozen. A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Book Your Test Today!
We have branches across Kenya and offer a convenient home sample collection service. To book the Nx Gen Sequencing Retinitis Pigmentosa Test, please call or WhatsApp us at +254711564616.