SBDS Gene Shwachman-Diamond Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Bone Marrow Failure
The SBDS Gene Shwachman-Diamond Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Shwachman-Diamond syndrome (SDS), a rare inherited disorder affecting multiple body systems. This comprehensive genetic evaluation utilizes next-generation sequencing technology to provide precise detection of pathogenic variants in the SBDS gene, enabling accurate diagnosis and informed medical management.
What Does This Test Measure and Detect?
This advanced genetic test specifically analyzes the SBDS (Shwachman-Bodian-Diamond syndrome) gene located on chromosome 7q11. The test detects:
- Pathogenic mutations in the SBDS gene responsible for SDS
- Both common and rare genetic variants affecting ribosomal function
- Autosomal recessive inheritance patterns
- Specific nucleotide changes, deletions, and insertions
- Compound heterozygous mutations
The SBDS gene plays a critical role in ribosome biogenesis and cellular protein synthesis. Mutations in this gene disrupt normal ribosomal assembly, leading to the characteristic features of Shwachman-Diamond syndrome including bone marrow failure, pancreatic insufficiency, and skeletal abnormalities.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with clinical features suggestive of Shwachman-Diamond syndrome, including:
- Persistent neutropenia or other cytopenias
- Recurrent bacterial infections due to immune deficiency
- Failure to thrive or growth retardation in childhood
- Pancreatic exocrine insufficiency with malabsorption
- Skeletal abnormalities including metaphyseal dysostosis
- Developmental delay or learning difficulties
- Family history of bone marrow failure syndromes
- Unexplained hematological abnormalities
Clinical Benefits of Early Genetic Diagnosis
Early identification of SBDS gene mutations provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Shwachman-Diamond syndrome and differentiates from other bone marrow failure disorders
- Personalized Treatment: Enables targeted management strategies for hematological complications
- Nutritional Support: Guides pancreatic enzyme replacement therapy and nutritional interventions
- Cancer Surveillance: Facilitates monitoring for myelodysplastic syndrome and leukemia risks
- Family Planning: Provides genetic counseling for reproductive decisions
- Proactive Management: Allows early intervention for potential complications
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and hematologists:
- Positive Result: Indicates pathogenic mutations in the SBDS gene confirming Shwachman-Diamond syndrome diagnosis
- Negative Result: Suggests absence of detectable SBDS mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with single mutation who may pass the condition to offspring
All positive results include comprehensive genetic counseling to discuss implications, management strategies, and family testing recommendations.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | SBDS Gene Shwachman-Diamond 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 |
| Specialty | Hematology and Genetics |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications and potential outcomes
- Review of insurance coverage and payment options
Nationwide Testing Availability
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. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our comprehensive SBDS Gene Shwachman-Diamond Syndrome NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and nationwide availability, accessing advanced genetic testing has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are available to answer your questions and guide you through the testing process.
Early genetic diagnosis can make a significant difference in managing Shwachman-Diamond syndrome effectively. Take control of your genetic health today with our state-of-the-art NGS testing technology.
