ANK1 Gene Spherocytosis Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spherocytosis
The ANK1 Gene Spherocytosis Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for hereditary blood disorders. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify specific mutations in the ANK1 gene, which encodes ankyrin-1 – a critical protein essential for maintaining the structural integrity of red blood cell membranes. Hereditary spherocytosis type 1 is the most common form of inherited hemolytic anemia in people of Northern European descent, affecting approximately 1 in 2,000 individuals.
What Does This Test Detect?
Our comprehensive genetic analysis specifically targets and sequences the entire ANK1 gene to identify:
- Point mutations affecting ankyrin-1 protein function
- Deletions and insertions in the ANK1 gene sequence
- Splice site mutations disrupting normal gene expression
- Frameshift mutations leading to truncated proteins
- Missense mutations altering protein structure and function
Who Should Consider This Genetic Test?
This advanced genetic screening is recommended for individuals presenting with:
- Unexplained hemolytic anemia with spherical red blood cells
- Family history of hereditary spherocytosis or similar blood disorders
- Recurrent jaundice and gallstones in childhood or adolescence
- Splenomegaly (enlarged spleen) without clear cause
- Positive osmotic fragility test results
- Planning pregnancy with family history of blood disorders
- Unexplained neonatal jaundice requiring phototherapy
Clinical Benefits of ANK1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms hereditary spherocytosis type 1 with molecular precision
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Treatment Guidance: Helps determine appropriate therapeutic interventions
- Prognostic Information: Provides insight into disease severity and progression
- Early Intervention: Facilitates timely management of complications
- Genetic Counseling: Supports family members in understanding inheritance patterns
Understanding Your Test Results
Your genetic test report will provide comprehensive information about ANK1 gene mutations:
- Positive Result: Indicates the presence of pathogenic ANK1 mutations confirming hereditary spherocytosis type 1 diagnosis
- Negative Result: Suggests absence of detectable ANK1 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ANK1 Gene Spherocytosis Type 1 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 Preparation Requirements
Before scheduling your genetic test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Identification of family members affected by hereditary spherocytosis
- Review of previous hematological test results and medical records
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 nationwide. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about hereditary blood disorders affect your quality of life. Our ANK1 Gene Spherocytosis Type 1 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your genetic makeup and hereditary risks.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team of certified genetic counselors and hematology specialists are available to answer your questions and guide you through the testing process.
Take the first step toward understanding your genetic health and protecting future generations. Book your ANK1 Gene Spherocytosis Type 1 NGS Genetic DNA Test today and embrace the power of precision medicine.
