Nx Gen Sequencing Leber Congenital Amaurosis Test
Comprehensive Genetic Testing for Inherited Retinal Disorders
Leber Congenital Amaurosis (LCA) represents one of the most severe forms of inherited retinal dystrophy, typically manifesting in infancy or early childhood. Our Nx Gen Sequencing Leber Congenital Amaurosis Test employs cutting-edge next-generation sequencing technology to provide comprehensive genetic analysis for this debilitating condition. This advanced diagnostic approach enables precise identification of genetic mutations responsible for retinal degeneration, offering families crucial insights for medical management and treatment planning.
What Does This Test Measure and Detect?
This comprehensive genetic panel analyzes 19 critical genes known to be associated with Leber Congenital Amaurosis:
- AIPL1 – Essential for photoreceptor function and survival
- CABP4 – Involved in calcium signaling in photoreceptors
- CEP290 – Critical for ciliary function in retinal cells
- CRB1 – Maintains retinal cell polarity and structure
- CRX – Transcription factor for photoreceptor development
- GUCY2D – Key enzyme in phototransduction cascade
- IMPDH1 – Involved in purine nucleotide synthesis
- IQCB1 – Essential for ciliary function and protein transport
- KCNJ13 – Potassium channel important for retinal function
- LCA5 – Critical for connecting cilia structure
- LRAT – Enzyme in visual cycle retinoid metabolism
- NMNAT1 – Involved in NAD+ biosynthesis
- OTX2 – Transcription factor for retinal development
- RD3 – Regulator of guanylate cyclase activity
- RDH12 – Retinol dehydrogenase in visual cycle
- RPE65 – Key enzyme in retinoid isomerization
- RPGRIP1 – Essential for photoreceptor ciliary function
- SPATA7 – Involved in protein transport in photoreceptors
- TULP1 – Important for photoreceptor development and function
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Severe visual impairment or blindness from birth or early infancy
- Nystagmus (involuntary eye movements) in early childhood
- Poor pupillary light responses despite normal retinal appearance
- Family history of inherited retinal disorders
- Delayed visual development in infants and young children
- Photophobia and night blindness in early childhood
- Oculodigital reflex (eye poking or rubbing)
- Children with suspected retinal dystrophy of unknown cause
Significant Benefits of Genetic Testing
Undergoing genetic testing for Leber Congenital Amaurosis provides numerous advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of vision loss
- Personalized Treatment: Enables targeted therapies including emerging gene therapies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and visual outcomes
- Clinical Trial Eligibility: Identifies patients who may qualify for cutting-edge treatments
- Comprehensive Care: Facilitates coordinated management with ophthalmologists and genetic counselors
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your genetic profile:
- Positive Result: Identifies specific genetic mutations causing Leber Congenital Amaurosis, enabling targeted management strategies
- Negative Result: May indicate mutations in genes not covered by this panel or non-genetic causes of vision loss
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Detects individuals who carry one copy of a mutated gene but may not show symptoms
All results are accompanied by detailed interpretation from our team of genetic specialists and genetic counselors to ensure you fully understand the implications for your health and family.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | Nx Gen Sequencing Leber Congenital Amaurosis Test |
| Discount Price | $716 USD |
| Regular Price | $796 USD |
| Turnaround Time | Sample Daily by 9 am; Report 45 Working days |
| Sample Type | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Pre-test Requirements | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory |
| Testing Methodology | NGS, Sanger sequencing |
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about inherited retinal conditions affect your family’s future. Our Nx Gen Sequencing Leber Congenital Amaurosis Test provides the genetic insights needed for informed medical decisions and personalized care planning. Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with inherited retinal disorders.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Take control of your genetic health and unlock the power of precision medicine for inherited retinal conditions.
