ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test
Introduction
The ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the ASCL1 gene, which are associated with congenital central hypoventilation syndrome (CCHS). This condition affects the body’s ability to regulate breathing, particularly during sleep. Early diagnosis is crucial for effective management and treatment, making this test an important tool for pediatricians and geneticists.
What the Test Measures
This test detects specific mutations in the ASCL1 gene through Next Generation Sequencing (NGS) technology. By analyzing the genetic material, healthcare providers can determine if a patient has inherited the genetic predisposition for CCHS.
Who Should Consider This Test?
Patients who exhibit symptoms such as:
- Difficulty breathing during sleep
- Frequent episodes of respiratory distress
- Family history of congenital central hypoventilation syndrome
are encouraged to consider this test. Additionally, individuals with risk factors related to dysmorphology should consult their healthcare provider about the necessity of genetic testing.
Benefits of Taking the Test
- Accurate diagnosis of congenital central hypoventilation syndrome
- Informed decision-making regarding treatment options
- Potential for early intervention to improve patient outcomes
- Understanding of genetic risks for family members
Understanding Your Results
Results from the ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test will provide insight into the presence of ASCL1 gene mutations. A genetic counseling session is recommended to help interpret the results and discuss any implications for the patient and their family.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Branches and Booking
We have branches across all major cities in Kenya and offer a convenient home sample collection service. To book the ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test, please call or WhatsApp us at +254746286171.
Test Details
- Turnaround Time: 3 to 4 weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.
Take the first step towards understanding your genetic health with the ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test.
