NBN Gene Nijmegen Breakage Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for DNA Repair Disorders
The NBN Gene Nijmegen Breakage Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the NBN (Nibrin) gene, which plays a critical role in DNA double-strand break repair. This sophisticated genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the entire NBN gene coding region, enabling accurate detection of pathogenic variants associated with Nijmegen Breakage Syndrome (NBS).
What This Advanced Genetic Test Detects
Our NBN Gene NGS Test specifically identifies:
- Pathogenic mutations in the NBN gene responsible for Nijmegen Breakage Syndrome
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the NBN gene region
- Compound heterozygous and homozygous mutations
- Carrier status for autosomal recessive inheritance patterns
Clinical Indications: Who Should Consider This Test?
Primary Clinical Presentations
This genetic test is particularly recommended for individuals presenting with:
- Progressive microcephaly developing during infancy
- Growth retardation and developmental delays
- Characteristic facial features including receding forehead and prominent midface
- Immunodeficiency with recurrent infections
- Increased cancer susceptibility, particularly lymphoid malignancies
- Chromosomal instability and radiation sensitivity
- Family history of Nijmegen Breakage Syndrome or consanguinity
Pediatric and Genetic Counseling Applications
The test is especially valuable in pediatric genetics for:
- Confirming clinical diagnosis in symptomatic children
- Carrier testing for family members
- Prenatal diagnosis in high-risk pregnancies
- Differential diagnosis from other microcephaly syndromes
- Genetic counseling and family planning decisions
Significant Benefits of NBN Gene Testing
Clinical Management Advantages
Undergoing NBN gene testing provides numerous clinical benefits:
- Accurate Diagnosis: Confirms or rules out Nijmegen Breakage Syndrome
- Early Intervention: Enables proactive management of immunodeficiency and cancer risks
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Care: Guides appropriate surveillance and treatment strategies
- Genetic Counseling: Supports informed decision-making for affected families
Long-term Health Implications
Understanding NBN gene status helps:
- Implement appropriate cancer surveillance protocols
- Manage immunodeficiency with targeted therapies
- Provide anticipatory guidance for developmental outcomes
- Coordinate multidisciplinary care involving immunology, oncology, and neurology
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes:
- Positive Result: Identification of pathogenic mutations confirms diagnosis of Nijmegen Breakage Syndrome
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation
- Carrier Status: Identification of single pathogenic mutation indicates carrier status
Post-Test Recommendations
Following testing, we recommend:
- Consultation with a certified genetic counselor
- Comprehensive clinical evaluation by a geneticist
- Regular follow-up with appropriate specialists
- Family member testing when indicated
- Implementation of personalized management plan
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | NBN Gene Nijmegen Breakage Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology, DNA Repair Disorders |
Pre-Test Requirements and Preparation
Essential Pre-Test Information
Before scheduling your NBN Gene Test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing
- Insurance pre-authorization if applicable
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Phoenix, Arizona testing centers
- Philadelphia, Boston, Washington DC, and East Coast locations
- Miami, Atlanta, and Southeastern centers
- San Francisco, Seattle, and West Coast facilities
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of Nijmegen Breakage Syndrome, or if you have a family history of this condition, our NBN Gene NGS Genetic DNA Test provides the comprehensive analysis needed for accurate diagnosis and informed medical management.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our experienced genetic specialists are ready to guide you through the testing process and help you understand your results.
Don’t wait to get the genetic answers you need for better health outcomes and family planning decisions. Book your NBN Gene Nijmegen Breakage Syndrome NGS Genetic DNA Test today and take control of your genetic health journey.
