SMC1A Gene Cornelia De Lange Syndrome Type 2 NGS Genetic DNA Test
Introduction to the SMC1A Gene Test
The SMC1A Gene Cornelia De Lange Syndrome Type 2 NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to identify mutations in the SMC1A gene. This test is crucial for individuals suspected of having Cornelia de Lange Syndrome (CdLS), a genetic disorder characterized by growth delays, intellectual disability, and distinctive facial features.
What the Test Measures
This genetic test specifically detects alterations in the SMC1A gene that are associated with Cornelia de Lange Syndrome Type 2. By analyzing the DNA, clinicians can assess the presence of pathogenic variants that may contribute to the syndrome’s clinical features.
Who Should Consider This Test?
Individuals who should consider the SMC1A Gene test include:
- Patients exhibiting symptoms of Cornelia de Lange Syndrome, such as developmental delays, limb malformations, and distinctive facial features.
- Those with a family history of genetic disorders, particularly in the context of CdLS.
- Individuals seeking clarification on unexplained medical conditions related to growth and development.
Benefits of Taking the Test
The benefits of undergoing the SMC1A Gene Cornelia De Lange Syndrome Type 2 NGS Genetic DNA Test include:
- Accurate diagnosis of genetic conditions, enabling better management and treatment options.
- Providing families with valuable information regarding the risk of recurrence in future pregnancies.
- Facilitating personalized care plans tailored to the individual’s specific genetic profile.
- Offering peace of mind through early detection and diagnosis.
Understanding Your Results
Once the test is complete, results will be interpreted by a qualified genetic counselor or specialist. They will explain the findings and their implications, helping you understand the genetic basis of any identified conditions. This guidance is essential for making informed decisions about health management and family planning.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SMC1A Gene Cornelia De Lange Syndrome Type 2 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait for symptoms to escalate. Take proactive steps towards understanding your genetic health. Book the SMC1A Gene Cornelia De Lange Syndrome Type 2 NGS Genetic DNA Test today! For bookings, please call or WhatsApp us at +2348077798758.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: It is recommended to have a clinical history assessment and a genetic counseling session to draw a pedigree chart of family members affected by the SMC1A gene.
Specialty: Dermatology, Department: Genetics, Method: NGS Technology, Disease Type: Osteology Dermatology Immunology Disorders.
