MPDZ Gene Hydrocephalus, nonsyndromic, autosomal recessive type 2 NGS Genetic Test
Short Name: MPDZ Hydrocephalus NGS
Also known as: MPDZ-related hydrocephalus, Autosomal recessive hydrocephalus type 2, MPDZ gene mutation analysis
MPDZ Gene Hydrocephalus, nonsyndromic, autosomal recessive type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / One drop blood on FTA card samples. Results in Reports are delivered in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To detect pathogenic variants in the MPDZ gene associated with autosomal recessive nonsyndromic hydrocephalus type 2, enabling early diagnosis, informed management, and genetic counselling for affected families.
- Test Code
- 4140
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / One drop blood on FTA card
- Result Time
- Reports are delivered in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A genetic counselling session to draw a family pedigree is recommended prior to sample collection.
Method: Peripheral blood draw / FTA blood spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample or a blood spot on an FTA card using sterile procedures.
Report Delivery
The sample will be securely transported to the laboratory. The result will be provided along with raw data files within 3 to 4 weeks.
Timeline: Reports are delivered in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the MPDZ gene associated with autosomal recessive nonsyndromic hydrocephalus type 2, enabling early diagnosis, informed management, and genetic counselling for affected families.
How to Prepare
- No fasting required for this test
- Inform the laboratory if you have had a blood transfusion or bone marrow transplant in the past 6 months
- Carry a valid prescription or physician referral if available
- Consent for genetic testing must be provided
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling is essential for patients and families dealing with autosomal recessive conditions. This NGS test provides critical information to guide reproductive planning and clinical management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient volume for DNA extraction
- Incorrectly labeled sample
- Sample received in non-EDTA tube
Understanding Your Results
Positive (Pathogenic/likely pathogenic variant detected)
Confirms the molecular diagnosis of MPDZ-related autosomal recessive hydrocephalus type 2.
Negative (No pathogenic variant detected)
Reduces but does not entirely exclude the likelihood of MPDZ-related hydrocephalus; other genetic causes may be considered.
Variant of Uncertain Significance (VUS)
A mutation was identified, but its clinical significance is not yet established. Additional familial studies and further testing may be recommended.
If you receive a positive test result or a VUS, schedule an appointment with a clinical geneticist or neurologist to discuss individualized management, treatment options, and family screening.
Limitations
- ⚠The test is limited to analysis of the MPDZ gene and may not detect pathogenic variants in other genes associated with hydrocephalus
- ⚠Intronic or regulatory region variants may not be captured by this targeted NGS panel
- ⚠Large gene rearrangements, deep intronic mutations, and trinucleotide repeat expansions may not be reliably detected
- ⚠A negative result does not completely rule out genetic causes of hydrocephalus
- ⚠Variant classification may change over time as new scientific evidence emerges
Risks & Considerations
- ●Minor bleeding or bruising at the blood collection site
- ●Very low risk of infection
Interfering Factors
- ●Insufficient or degraded DNA
- ●Presence of PCR inhibitors
- ●Sample contamination
- ●Low variant allele fraction due to mosaicism
Compare With Similar Tests
| Test | MPDZ Gene Hydrocephalus, nonsyndromic, autosomal recessive type 2 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | MPDZ Gene Hydrocephalus, nonsyndromic, autosomal recessive type 2 NGS Genetic Test |
Frequently Asked Questions
What is the MPDZ Gene Hydrocephalus NGS Genetic Test?
Which sample is needed?
Is fasting required?
What is the cost of the test?
How long will the report take?
Is home sample collection available?
Will I receive raw data files?
What does a positive result mean?
What does a negative result mean?
Who may be referred for this test?
Should I have genetic counselling before testing?
Will insurance cover the test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.