Get comprehensive ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test for only $500 in USA. Advanced NGS technology detects mutations causing rare ophthalmology disorders. Available in New York
Sale!

ITPR1 Gene Gillespie Syndrome Genetic Test

Original price was: $700.Current price is: $500.

-29%

The ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test is a cutting-edge genetic analysis that identifies mutations in the ITPR1 gene responsible for Gillespie syndrome, a rare congenital ophthalmology disorder. This comprehensive test utilizes Next-Generation Sequencing (NGS) technology to provide precise detection of genetic variants associated with aniridia, cerebellar ataxia, and intellectual disability. Priced at $500 USD, this test is essential for individuals with family history of Gillespie syndrome or those presenting with characteristic symptoms including partial aniridia, balance problems, and developmental delays. The results enable accurate diagnosis, informed family planning decisions, and personalized medical management strategies.

Trusted Testing. Expert Care. Guaranteed Privacy.

  • Accredited and Trusted
  • Expert Scientists, Advanced Technology
  • Data Privacy Guaranteed
Guaranteed Safe Checkout

ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test

Comprehensive Genetic Analysis for Rare Ophthalmology Disorders

The ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare congenital conditions affecting eye development and neurological function. This advanced molecular test specifically targets mutations in the ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1) gene, which plays a critical role in calcium signaling within cells and is essential for proper eye formation and cerebellar development.

What This Test Measures and Detects

Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire ITPR1 gene to identify:

  • Pathogenic variants and mutations associated with Gillespie syndrome
  • Single nucleotide polymorphisms (SNPs) affecting gene function
  • Insertions, deletions, and copy number variations
  • Both inherited and de novo genetic alterations
  • Specific mutation types including missense, nonsense, and frameshift variants

Who Should Consider This Genetic Test

This test is particularly recommended for individuals presenting with:

  • Congenital partial aniridia (incomplete iris formation)
  • Cerebellar ataxia and balance coordination issues
  • Developmental delays or intellectual disability
  • Family history of Gillespie syndrome or similar ophthalmology disorders
  • Unexplained combination of eye abnormalities and neurological symptoms
  • Children with congenital fixed dilated pupils and motor coordination problems

Clinical Benefits of Genetic Testing

Undergoing the ITPR1 Gene Gillespie Syndrome test provides numerous advantages:

  • Accurate Diagnosis: Confirms or rules out Gillespie syndrome with high precision
  • Family Planning: Enables informed reproductive decisions for at-risk families
  • Personalized Management: Guides appropriate ophthalmological and neurological care
  • Prognostic Information: Helps predict disease progression and potential complications
  • Genetic Counseling: Provides basis for comprehensive family genetic counseling
  • Research Contribution: Contributes to ongoing understanding of rare genetic disorders

Understanding Your Test Results

Your genetic test report will include detailed interpretation by our certified genetic specialists:

  • Positive Result: Indicates presence of pathogenic ITPR1 mutation consistent with Gillespie syndrome diagnosis
  • Negative Result: Suggests absence of known disease-causing mutations in the ITPR1 gene
  • Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
  • Carrier Status: Determines if individuals carry one copy of mutated gene without showing symptoms

All results are accompanied by comprehensive genetic counseling to ensure proper understanding and next steps.

Test Details and Pricing

Test Component Details
Test Name ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test
Regular Price $700 USD
Discount Price $500 USD
Turnaround Time 3 to 4 Weeks
Sample Type Blood, Extracted DNA, or One Drop Blood on FTA Card
Testing Method Next-Generation Sequencing (NGS) Technology

Pre-Test Requirements

To ensure optimal testing outcomes, we require:

  • Complete clinical history of the patient
  • Genetic counseling session to create detailed family pedigree chart
  • Documentation of ophthalmological and neurological examinations
  • Informed consent for genetic testing

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, and many more cities. Our network of certified collection centers ensures easy access to this specialized genetic testing.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about genetic conditions affect your health decisions. Our ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health and family planning.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.

SKU: 2355 Category: