SLC26A2 Gene Achondrogenesis Type 1B NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Development Disorders
The SLC26A2 Gene Achondrogenesis Type 1B NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with severe skeletal dysplasias. Achondrogenesis type 1B is a rare, autosomal recessive disorder characterized by extreme bone development abnormalities that are typically fatal in the prenatal or neonatal period. This advanced genetic test provides crucial information for accurate diagnosis, family planning, and genetic counseling.
What Does This Test Measure and Detect?
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the SLC26A2 gene, also known as the diastrophic dysplasia sulfate transporter gene. The test specifically detects:
- Pathogenic variants and mutations in the SLC26A2 gene
- Single nucleotide polymorphisms affecting sulfate transport
- Deletions, insertions, and other structural variations
- Autosomal recessive inheritance patterns
- Carrier status for family members
The SLC26A2 gene encodes a sulfate transporter protein essential for proper sulfation of proteoglycans in cartilage and bone matrix. Mutations in this gene disrupt normal skeletal development, leading to the characteristic features of Achondrogenesis type 1B.
Who Should Consider This Genetic Test?
This test is recommended for individuals and families experiencing specific clinical scenarios:
- Prenatal Diagnosis: When ultrasound reveals severe skeletal abnormalities including shortened limbs, narrow chest, and underdeveloped vertebrae
- Family History: Individuals with known family history of skeletal dysplasias or consanguineous parents
- Carrier Testing: Family members of affected individuals seeking carrier status information
- Differential Diagnosis: Cases where other forms of skeletal dysplasia need to be ruled out
- Genetic Counseling: Couples planning pregnancy with risk factors for skeletal disorders
Clinical Symptoms and Indications
Clinical features that may indicate the need for SLC26A2 genetic testing include:
- Severe shortening of all limbs (micromelia)
- Narrow thorax with respiratory complications
- Underdeveloped vertebral bodies
- Hydrops fetalis (fluid accumulation)
- Abnormal cartilage formation visible on imaging
- Family history of lethal skeletal dysplasias
Benefits of SLC26A2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of the specific genetic mutation causing skeletal abnormalities
- Genetic Counseling: Essential information for family planning and recurrence risk assessment
- Early Intervention: Enables appropriate medical management and counseling for affected families
- Carrier Detection: Identifies asymptomatic carriers within families
- Research Contribution: Helps advance understanding of skeletal development disorders
- Peace of Mind: Provides definitive answers for families facing uncertain diagnoses
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Identification of pathogenic mutations confirms diagnosis and provides recurrence risk information
- Negative Result: No detected mutations may rule out SLC26A2-related disorders but may require additional testing
- Variant of Uncertain Significance: Some genetic changes require further research and family studies
- Carrier Status: Identification of individuals carrying one copy of the mutated gene
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC26A2 Gene Achondrogenesis Type 1B NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of any previous imaging or diagnostic studies
- Informed consent for genetic testing
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal development disorders affect your family’s future. Our specialized genetic testing provides the answers you need for informed medical decisions and family planning. Our team of genetic counselors and specialists are ready to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your SLC26A2 Gene Achondrogenesis Type 1B NGS Genetic DNA Test. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.
