CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test
Understanding Seckel Syndrome Type 6 and Genetic Testing
Seckel Syndrome Type 6 is a rare autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, and distinctive facial features. The CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics, utilizing cutting-edge next-generation sequencing technology to identify mutations in the CEP63 gene that cause this specific form of microcephalic primordial dwarfism.
This comprehensive genetic test is crucial for accurate diagnosis, as Seckel Syndrome Type 6 shares clinical features with other primordial dwarfism disorders but has distinct genetic causes. Early and precise identification through genetic testing enables appropriate medical management and genetic counseling for affected families.
What the Test Measures and Detects
The CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test specifically targets and analyzes the CEP63 gene using advanced next-generation sequencing methodology. This sophisticated approach enables:
- Comprehensive sequencing of the entire CEP63 gene coding regions
- Detection of point mutations, small insertions, and deletions
- Identification of homozygous and compound heterozygous mutations
- High-resolution analysis of genetic variants with clinical significance
- Accurate determination of autosomal recessive inheritance patterns
The test provides detailed information about specific genetic mutations that disrupt centrosomal function, leading to the characteristic features of Seckel Syndrome Type 6. CEP63 plays a critical role in centrosome duplication and mitotic progression, and mutations in this gene result in defective cell division and impaired growth.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Seckel Syndrome Type 6, including:
Clinical Indications and Symptoms
- Severe prenatal and postnatal growth retardation (height and weight below 3rd percentile)
- Proportional microcephaly with head circumference significantly below normal ranges
- Characteristic facial features including prominent nose, receding forehead, and micrognathia
- Intellectual disability ranging from mild to moderate severity
- Family history of primordial dwarfism or consanguineous parentage
- Suspected autosomal recessive inheritance pattern in familial cases
- Unexplained developmental delays with characteristic dysmorphic features
At-Risk Populations
- Children with unexplained severe growth failure
- Individuals with suspected microcephalic primordial dwarfism
- Families with history of Seckel syndrome or similar conditions
- Couples with previous affected children planning additional pregnancies
- Patients undergoing differential diagnosis for growth disorders
Benefits of CEP63 Genetic Testing
Undergoing the CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test provides numerous clinical and personal benefits:
Medical and Diagnostic Advantages
- Accurate Diagnosis: Provides definitive genetic confirmation of Seckel Syndrome Type 6, eliminating diagnostic uncertainty
- Differential Diagnosis: Helps distinguish between various forms of primordial dwarfism with overlapping clinical features
- Prognostic Information: Enables better understanding of disease progression and potential complications
- Personalized Management: Guides appropriate medical surveillance and intervention strategies
- Treatment Planning: Informs multidisciplinary care approaches including growth monitoring and developmental support
Family and Genetic Counseling Benefits
- Carrier Detection: Identifies asymptomatic carriers within families
- Reproductive Planning: Provides crucial information for family planning decisions
- Prenatal Diagnosis: Enables prenatal testing in subsequent pregnancies
- Genetic Risk Assessment: Determines recurrence risks for family members
- Psychological Support: Helps families understand and cope with genetic conditions
Understanding Your Test Results
Interpreting CEP63 genetic test results requires professional genetic counseling. Here’s general guidance on possible outcomes:
Possible Result Interpretations
- Positive Result: Identification of two pathogenic mutations in the CEP63 gene confirms diagnosis of Seckel Syndrome Type 6
- Carrier Status: Detection of one pathogenic mutation indicates carrier status without disease manifestation
- Negative Result: No pathogenic mutations found suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Identification of genetic changes with unknown clinical impact requiring further evaluation
Clinical Implications
Positive results confirm the genetic basis of observed clinical features and enable targeted management strategies. Negative results may indicate the need for broader genetic testing to identify other causes of primordial dwarfism. All results should be discussed with a qualified genetic counselor or clinical geneticist who can provide personalized interpretation and guidance.
Test Information and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test | – |
| Discount Price | Special promotional rate | $500 |
| Regular Price | Standard testing fee | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Accepted specimens | Blood, Extracted DNA, or One drop Blood on FTA Card |
| Testing Method | Advanced technology used | Next-Generation Sequencing (NGS) |
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Clinical History: Comprehensive medical history of the patient undergoing testing
- Genetic Counseling: Pre-test genetic counseling session recommended
- Family Pedigree: Detailed family history documenting affected relatives
- Informed Consent: Proper understanding of test implications and limitations
- Insurance Verification: Confirmation of coverage for genetic testing when applicable
Nationwide Testing Availability
We proudly offer the CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test across the United States through our extensive network of testing facilities. Our services are available in all major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Illinois metropolitan area
- Houston and Texas Gulf Coast
- Phoenix and Arizona communities
- Philadelphia and Pennsylvania regions
- And numerous additional locations nationwide
Our certified genetic counselors and clinical specialists are available to assist you throughout the testing process, from initial consultation to result interpretation and follow-up care.
Take the Next Step Toward Genetic Clarity
If you or your loved one exhibits symptoms suggestive of Seckel Syndrome Type 6 or has a family history of primordial dwarfism, the CEP63 genetic test can provide the answers you need. Early and accurate genetic diagnosis is essential for appropriate medical management and informed family planning.
Ready to schedule your CEP63 Gene Seckel Syndrome Type 6 NGS Genetic DNA Test? Contact our genetic specialists today to discuss your testing options and begin the journey toward genetic clarity.
Call or WhatsApp: +1(267) 388-9828
Our compassionate team is ready to answer your questions, explain the testing process, and help you schedule your appointment at a convenient location near you. Don’t wait to get the genetic information that could transform your healthcare journey.
