CUBN Gene Megaloblastic Anemia Type 1 Finnish Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Inherited Blood Disorders
The CUBN Gene Megaloblastic Anemia Type 1 Finnish Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying Imerslund-Gräsbeck Syndrome, a rare autosomal recessive disorder characterized by selective vitamin B12 malabsorption and proteinuria. This sophisticated genetic analysis provides crucial insights into inherited blood disorders that traditional diagnostic methods might miss, enabling precise diagnosis and targeted treatment strategies.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets mutations in the CUBN (cubilin) gene located on chromosome 10p12.1. The CUBN gene encodes cubilin, a protein essential for the intestinal absorption of vitamin B12-intrinsic factor complexes. The test utilizes Next-Generation Sequencing technology to identify:
- Point mutations in the CUBN gene
- Small insertions and deletions affecting gene function
- Specific Finnish-type mutations common in certain populations
- Genetic variants affecting vitamin B12 absorption pathways
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Patients with unexplained megaloblastic anemia unresponsive to oral vitamin B12 supplementation
- Individuals of Finnish descent with family history of similar blood disorders
- Children and adults experiencing persistent fatigue, weakness, and neurological symptoms
- Patients with concurrent proteinuria and hematological abnormalities
- Families with known history of Imerslund-Gräsbeck Syndrome
- Individuals with developmental delays or neurological manifestations suggestive of B12 deficiency
Key Benefits of CUBN Genetic Testing
Undergoing this comprehensive genetic analysis offers numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive identification of genetic mutations causing megaloblastic anemia
- Personalized Treatment: Enables targeted therapeutic approaches including appropriate B12 supplementation protocols
- Genetic Counseling: Facilitates informed family planning decisions and risk assessment
- Early Intervention: Allows for prompt treatment initiation before irreversible neurological damage occurs
- Differential Diagnosis: Helps distinguish between various forms of megaloblastic anemia
- Prognostic Information: Provides insights into disease progression and long-term management needs
Understanding Your Test Results
Genetic test results require careful interpretation by qualified healthcare professionals:
- Positive Result: Indicates the presence of pathogenic mutations in the CUBN gene, confirming diagnosis of Imerslund-Gräsbeck Syndrome
- Negative Result: Suggests absence of tested CUBN mutations, though other genetic or acquired causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene, important for family planning
All results should be discussed with a genetic counselor or hematologist who can provide comprehensive interpretation and guidance for next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
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. Our network of certified testing facilities ensures accessible, reliable genetic analysis for patients nationwide.
Take Control of Your Health Today
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our CUBN Gene Megaloblastic Anemia Type 1 Finnish Type NGS Genetic DNA Test provides the clarity required for effective medical management and informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward comprehensive genetic understanding.
Our team of genetic specialists and hematologists is ready to guide you through the testing process, from initial consultation to result interpretation and ongoing management. Experience the peace of mind that comes with definitive genetic diagnosis and personalized healthcare planning.
