YWHAE Gene Miller Dieker lissencephaly syndrome NGS Genetic Test
Also known as: Miller Dieker Syndrome, MDLS, Lissencephaly Type 1
YWHAE Gene Miller Dieker lissencephaly syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To detect mutations in the YWHAE gene for diagnosis of Miller Dieker Lissencephaly Syndrome, enabling early intervention and genetic counseling.
- Test Code
- 2778
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with the condition.
Laboratory Analysis
Standard blood draw or sample collection using FTA card.
Report Delivery
Sample is processed for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the YWHAE gene for diagnosis of Miller Dieker Lissencephaly Syndrome, enabling early intervention and genetic counseling.
How to Prepare
- Provide detailed clinical history
- Attend genetic counseling session
- Ensure sample is collected in appropriate container
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic testing for YWHAE mutations can aid in timely management of Miller Dieker Syndrome and guide family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Normal
No pathogenic variants detected in the YWHAE gene. Clinical correlation is recommended.
Abnormal
Pathogenic variant(s) identified, confirming diagnosis of Miller Dieker Lissencephaly Syndrome. Genetic counseling and management planning advised.
If symptoms such as seizures, developmental delay, or brain abnormalities are present, or if there is a family history of genetic disorders.
Limitations
- ⚠This test only analyzes the YWHAE gene and may not detect mutations in other genes associated with lissencephaly.
Risks & Considerations
- ●Minor bruising at blood draw site
- ●Rare risk of infection
Frequently Asked Questions
What is YWHAE Gene Miller Dieker Lissencephaly Syndrome?
What are the common symptoms of MDLS?
How is MDLS diagnosed?
What is the cost of the NGS Genetic Test for MDLS in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What sample types are accepted for the test?
Is fasting required for this test?
What is the purpose of genetic counseling before the test?
Can this test be used for prenatal diagnosis?
What are the treatment options for MDLS?
Is the test covered by insurance?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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