CBS Gene Homocystinuria NGS Genetic DNA Test
Understanding CBS Gene Homocystinuria and Its Clinical Significance
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency represents a serious inherited metabolic disorder affecting the transsulfuration pathway of methionine metabolism. This autosomal recessive condition disrupts the conversion of homocysteine to cystathionine, leading to toxic accumulation of homocysteine in blood and tissues. The CBS Gene Homocystinuria NGS Genetic DNA Test provides a comprehensive molecular analysis to identify pathogenic variants in the CBS gene, enabling accurate diagnosis and personalized management strategies for affected individuals and families.
What Does This Test Detect?
Our advanced NGS-based genetic test specifically targets the CBS gene located on chromosome 21q22.3, which encodes the enzyme cystathionine beta-synthase. This comprehensive analysis detects:
- Point mutations, insertions, and deletions in the CBS gene
- Missense, nonsense, and splice-site variants affecting enzyme function
- Compound heterozygous and homozygous mutations
- Known pathogenic variants associated with classical homocystinuria
- Novel variants of uncertain significance with detailed interpretation
Who Should Consider CBS Gene Testing?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained elevated plasma homocysteine levels (>50 μmol/L)
- Recurrent thromboembolic events at young age
- Ectopia lentis (lens dislocation) and severe myopia
- Marfanoid habitus with skeletal abnormalities
- Developmental delay or intellectual disability
- Family history of homocystinuria or consanguineous parents
- Newborn screening showing elevated methionine levels
- Unexplained osteoporosis or bone fractures in childhood
Comprehensive Benefits of CBS Gene Testing
Early genetic diagnosis through our NGS test provides numerous clinical advantages:
- Precise Diagnosis: Confirms CBS deficiency versus other causes of hyperhomocysteinemia
- Treatment Guidance: Identifies pyridoxine-responsive mutations for targeted therapy
- Family Planning: Enables carrier testing and genetic counseling for at-risk relatives
- Preventive Care: Facilitates early intervention to prevent thrombotic complications
- Dietary Management: Guides methionine-restricted diet and betaine supplementation
- Prognostic Information: Helps predict disease severity and clinical course
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your CBS gene analysis:
- Positive Result: Identification of two pathogenic variants confirms diagnosis of homocystinuria. Our genetic counselors will explain the specific mutations, their clinical significance, and recommended management strategies.
- Carrier Status: Detection of one pathogenic variant indicates carrier status with important implications for family planning.
- Negative Result: No pathogenic variants detected significantly reduces the likelihood of CBS deficiency, though other genetic or acquired causes of hyperhomocysteinemia should be considered.
- Variant of Uncertain Significance: Novel variants require correlation with clinical findings and possibly family studies for proper interpretation.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | CBS Gene Homocystinuria 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 |
Nationwide Accessibility Across USA
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks compromise your health. Early detection of CBS gene mutations can significantly impact treatment outcomes and quality of life. Our team of genetic specialists and counselors are ready to guide you through the testing process and help interpret your results within the context of your personal and family medical history.
Ready to schedule your CBS Gene Homocystinuria NGS Genetic DNA Test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward comprehensive genetic understanding and personalized healthcare management.
