DKC1 Gene Hoyeraal-Hreidarsson Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The DKC1 Gene Hoyeraal-Hreidarsson Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This sophisticated test utilizes next-generation sequencing technology to analyze the DKC1 gene, which plays a critical role in maintaining telomere length and ribosomal RNA processing. Mutations in this gene are directly linked to Hoyeraal-Hreidarsson syndrome, a severe multisystem disorder characterized by bone marrow failure, neurological complications, and developmental abnormalities.
What Does This Test Measure and Detect?
Our advanced NGS genetic test specifically targets and sequences the entire DKC1 gene to identify:
- Point mutations, deletions, and insertions in the DKC1 gene
- Pathogenic variants associated with Hoyeraal-Hreidarsson syndrome
- Genetic markers for telomere biology disorders
- Inheritance patterns (X-linked recessive)
- Risk assessment for family members
The test provides comprehensive coverage of all coding regions and critical regulatory elements of the DKC1 gene, ensuring maximum detection sensitivity for clinically relevant variants.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and children with growth retardation and failure to thrive
- Patients with microcephaly (abnormally small head size)
- Individuals showing cerebellar hypoplasia on brain imaging
- Patients with bone marrow failure or pancytopenia
- Those with immune deficiency and recurrent infections
- Children exhibiting developmental delays and intellectual disability
- Individuals with family history of dyskeratosis congenita or related disorders
- Patients with unexplained neurological symptoms in early childhood
Significant Benefits of Genetic Testing
Undergoing the DKC1 Gene Hoyeraal-Hreidarsson Syndrome test offers numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Accurate Prognosis: Provides clarity about disease progression and expected outcomes
- Family Planning: Assists in genetic counseling and reproductive decision-making
- Targeted Treatment: Guides appropriate medical interventions and monitoring protocols
- Peace of Mind: Reduces diagnostic uncertainty and unnecessary testing
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic DKC1 mutation, confirming Hoyeraal-Hreidarsson syndrome diagnosis
- Negative Result: Suggests no detectable mutation in the DKC1 gene, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results are accompanied by detailed explanations and recommendations from our board-certified genetic counselors.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | DKC1 Gene Hoyeraal-Hreidarsson Syndrome 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 |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications with our genetic specialists
- Understanding of potential outcomes and their significance
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures easy access to genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our DKC1 Gene Hoyeraal-Hreidarsson Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your health journey.
Our dedicated team of genetic specialists is ready to guide you through the testing process, answer your questions, and provide the support you need during this important diagnostic journey.
