TBCE Gene Hypoparathyroidism-Retardation-Dysmorphism Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Endocrine Disorders
The TBCE Gene Hypoparathyroidism-Retardation-Dysmorphism Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the TBCE gene, which causes Sanjad-Sakati syndrome. This rare autosomal recessive disorder affects multiple body systems, primarily involving endocrine function, neurological development, and physical characteristics. Our advanced next-generation sequencing technology provides comprehensive analysis of the TBCE gene, offering unparalleled accuracy in detecting pathogenic variants that traditional testing methods might miss.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets the TBCE (tubulin-specific chaperone E) gene located on chromosome 1q42.3. The test identifies:
- Point mutations, deletions, and insertions in the TBCE gene
- Pathogenic variants associated with impaired tubulin folding and microtubule function
- Genetic changes affecting parathyroid gland development and function
- Mutations leading to impaired neuronal migration and development
- Variants responsible for characteristic facial dysmorphism patterns
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following symptoms or clinical features:
- Unexplained hypocalcemia and tetany in infancy or childhood
- Developmental delay and intellectual disability
- Characteristic facial features including deep-set eyes, prominent forehead, and micrognathia
- Growth retardation and failure to thrive
- Seizures related to hypocalcemia
- Family history of consanguinity or affected siblings
- Suspected autosomal recessive inheritance pattern
- Unexplained endocrine abnormalities with developmental concerns
Benefits of Taking the TBCE Gene Test
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out Sanjad-Sakati syndrome with high accuracy
- Personalized Treatment: Enables targeted management of hypocalcemia and endocrine dysfunction
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of developmental support services
- Comprehensive Care Planning: Guides multidisciplinary approach involving endocrinology, neurology, and genetics specialists
- Research Contribution: Advances understanding of rare genetic disorders and potential therapeutic approaches
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive report provides detailed analysis of your genetic results with clear interpretation:
- Positive Result: Identification of pathogenic variants in both copies of the TBCE gene confirms diagnosis of Sanjad-Sakati syndrome
- Carrier Status: Detection of a single pathogenic variant indicates carrier status with no clinical symptoms
- Negative Result: No pathogenic variants detected significantly reduces likelihood of TBCE-related disorder
- Variant of Uncertain Significance: Rare genetic changes with unclear clinical implications require further evaluation
All results are accompanied by detailed clinical correlations and recommendations for follow-up care. Our genetic counselors are available to discuss results and provide comprehensive guidance for next steps.
Test Pricing and Information
| 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 have branches across the United States, making this essential genetic testing accessible to patients nationwide. Our facilities are located in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and many other cities. Each location is equipped with state-of-the-art laboratory technology and staffed by experienced genetic specialists.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our TBCE Gene Hypoparathyroidism-Retardation-Dysmorphism Syndrome NGS Genetic DNA Test provides the answers you need for informed medical management. With our discounted price of $500 USD and comprehensive nationwide coverage, 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 dedicated team is ready to assist you with pre-test preparation, sample collection, and comprehensive result interpretation.
