NBAS Gene Short Stature Optic Nerve Atrophy and Pelger-Huet Anomaly NGS Genetic DNA Test
Comprehensive Genetic Testing for Complex Pediatric Conditions
The NBAS Gene Short Stature Optic Nerve Atrophy and Pelger-Huet Anomaly NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic disorders affecting multiple body systems. This specialized test utilizes cutting-edge next-generation sequencing technology to identify mutations in the NBAS (Neuroblastoma Amplified Sequence) gene, which plays a crucial role in cellular protein homeostasis and endoplasmic reticulum function.
NBAS gene mutations are associated with a distinctive clinical syndrome characterized by the triad of short stature, optic nerve atrophy leading to visual impairment, and Pelger-Huet anomaly affecting white blood cell morphology. This comprehensive genetic analysis provides clinicians with definitive diagnostic information essential for accurate diagnosis, prognosis assessment, and personalized treatment planning.
What This Advanced Genetic Test Detects
Our NBAS Gene NGS Test specifically identifies pathogenic variants in the NBAS gene that disrupt normal cellular processes. The test measures:
- Point mutations, insertions, and deletions in the NBAS gene coding regions
- Copy number variations affecting gene dosage
- Splice site mutations impacting protein production
- Compound heterozygous or homozygous mutations
- Novel variants of uncertain significance requiring clinical correlation
The NBAS gene encodes a protein involved in the syntaxin 18 complex, which regulates endoplasmic reticulum-to-Golgi transport and plays a critical role in maintaining cellular protein quality control. Mutations in this gene disrupt these essential cellular functions, leading to the characteristic multisystem manifestations observed in affected individuals.
Who Should Consider NBAS Genetic Testing
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with the following clinical features:
- Unexplained Short Stature: Children or adults with significantly below-average height without clear endocrine or nutritional causes
- Visual Impairment: Progressive vision loss, optic nerve pallor, or confirmed optic atrophy on ophthalmological examination
- Blood Abnormalities: Presence of Pelger-Huet anomaly characterized by hyposegmented neutrophil nuclei with distinctive bilobed “pince-nez” appearance
- Developmental Concerns: Delayed motor milestones, learning difficulties, or intellectual disability
- Family History: Individuals with affected siblings or relatives showing similar clinical features
- Dysmorphic Features: Subtle facial characteristics or skeletal abnormalities associated with the syndrome
Significant Benefits of NBAS Genetic Testing
Undergoing NBAS gene testing provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and provides molecular confirmation of the condition
- Personalized Management: Enables targeted surveillance for associated complications and appropriate interventions
- Genetic Counseling: Facilitates accurate recurrence risk assessment and family planning decisions
- Treatment Guidance: Informs appropriate therapeutic approaches and avoids unnecessary treatments
- Prognostic Information: Provides insight into disease progression and potential complications
- Research Contribution: Contributes to expanding knowledge about this rare genetic disorder
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides detailed interpretation of your NBAS gene analysis:
- Positive Result: Identification of pathogenic or likely pathogenic variants confirms the genetic diagnosis and explains the clinical features
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential as other genetic or non-genetic causes may be present
- Variant of Uncertain Significance: Identification of genetic changes with unclear clinical impact requiring additional family studies and clinical correlation
- Carrier Status: Identification of individuals carrying a single mutated copy who may be at risk of having affected children if their partner is also a carrier
All results are accompanied by detailed clinical correlations and recommendations from our board-certified genetic specialists. Post-test genetic counseling is strongly recommended to fully understand the implications of your results.
Test Pricing and Service Details
| Service | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Service Information
- Turnaround Time: 3 to 4 weeks from sample receipt
- Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
- Pre-test Requirements: Complete clinical history and genetic counseling session
- Insurance: May be covered by insurance with proper medical necessity documentation
Nationwide Testing Availability
GGC DNA provides comprehensive NBAS 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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network of certified genetic counselors and phlebotomists ensures accessible, high-quality genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of NBAS-related disorders, don’t delay in seeking definitive genetic answers. Our specialized NBAS Gene NGS Test provides the comprehensive analysis needed for accurate diagnosis and appropriate management. Contact our genetic specialists today to schedule your pre-test genetic counseling session and learn more about this advanced diagnostic option.
Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to book your NBAS genetic test appointment or to discuss your testing options with our expert genetic counselors.
Early genetic diagnosis can make a significant difference in managing this complex condition and optimizing long-term outcomes. Trust GGC DNA for accurate, reliable genetic testing with comprehensive support throughout your diagnostic journey.
