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TERT Gene Dyskeratosis Congenita Autosomal Recessive Type 4 Autosomal Dominant Type 2 Genetic Test

Original price was: $700.Current price is: $500.

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The TERT Gene Dyskeratosis Congenita NGS Genetic DNA Test is a comprehensive diagnostic tool that identifies mutations in the TERT gene associated with both autosomal recessive type 4 and autosomal dominant type 2 forms of dyskeratosis congenita. This next-generation sequencing test provides crucial insights into genetic predisposition to bone marrow failure, skin pigmentation abnormalities, nail dystrophy, and immune system disorders. Early detection through this $500 USD test enables proactive management strategies and personalized treatment approaches for affected individuals and at-risk family members. The test requires a simple blood sample or extracted DNA and delivers results within 3-4 weeks, providing families with definitive genetic information for informed healthcare decisions.

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TERT Gene Dyskeratosis Congenita Autosomal Recessive Type 4 Autosomal Dominant Type 2 NGS Genetic DNA Test

Understanding TERT Gene Dyskeratosis Congenita

Dyskeratosis congenita is a rare genetic disorder characterized by the classic triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia (white patches) of the mucous membranes. The TERT gene plays a critical role in maintaining telomere length and cellular aging processes. Mutations in the TERT gene can lead to two distinct inheritance patterns: autosomal recessive type 4 and autosomal dominant type 2 dyskeratosis congenita, both associated with accelerated telomere shortening and premature cellular aging.

What This Test Measures and Detects

Our advanced Next-Generation Sequencing (NGS) technology comprehensively analyzes the TERT gene to identify pathogenic variants responsible for:

  • Autosomal recessive type 4 dyskeratosis congenita mutations
  • Autosomal dominant type 2 dyskeratosis congenita mutations
  • Single nucleotide variants (SNVs) and small insertions/deletions
  • Copy number variations affecting the TERT gene
  • Genetic markers associated with telomere biology disorders

Who Should Consider This Genetic Test

Clinical Indications and Symptoms

This test is recommended for individuals presenting with:

  • Characteristic skin pigmentation changes and nail abnormalities
  • Oral leukoplakia or mucosal membrane changes
  • Progressive bone marrow failure symptoms
  • Family history of dyskeratosis congenita or telomere biology disorders
  • Unexplained pulmonary fibrosis or liver abnormalities
  • Developmental delays or growth retardation in children
  • Increased cancer susceptibility, particularly squamous cell carcinoma

Benefits of TERT Gene Testing

Early genetic diagnosis through our comprehensive NGS testing provides numerous advantages:

  • Accurate Diagnosis: Confirms or rules out genetic predisposition to dyskeratosis congenita
  • Family Planning: Enables informed reproductive decisions and prenatal testing options
  • Proactive Management: Facilitates early intervention for bone marrow monitoring
  • Personalized Treatment: Guides appropriate therapeutic approaches based on genetic findings
  • Risk Assessment: Identifies at-risk family members for preventive screening
  • Research Contribution: Advances understanding of telomere biology disorders

Understanding Your Test Results

Our comprehensive genetic counseling support helps you interpret your results:

  • Positive Result: Indicates the presence of a pathogenic TERT gene mutation. Our genetic counselors will explain inheritance patterns and provide personalized management recommendations.
  • Negative Result: Suggests no detectable TERT gene mutations in the analyzed regions. However, other genetic causes of dyskeratosis congenita may require additional testing.
  • Variant of Uncertain Significance: Some genetic changes may have unknown clinical implications. Ongoing research and family studies help clarify these findings.

Test Information and Pricing

Test Component Details
Test Name TERT Gene Dyskeratosis Congenita Autosomal Recessive Type 4 Autosomal Dominant Type 2 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 Testing Availability

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, and many other cities. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality genetic testing services nationwide.

Take Control of Your Genetic Health Today

Don’t wait to get the answers you need about TERT gene-related disorders. Our comprehensive genetic testing provides clarity and direction for managing dyskeratosis congenita and associated conditions. Schedule your appointment today and take the first step toward understanding your genetic health.

Call or WhatsApp us now at +1(267) 388-9828 to book your TERT Gene Dyskeratosis Congenita DNA Test and speak with our genetic counseling team about your testing options and preparation requirements.

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