Skip to main content
DNA Labs India

PIGQ Gene Neurodevelopmental disorder, PIGQ related NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PIGQ Gene Neurodevelopmental disorder, PIGQ related NGS Genetic Test

Short Name: PIGQ NGS Genetic Test

Also known as: PIGQ-related neurodevelopmental disorder

PIGQ Gene Neurodevelopmental disorder, PIGQ related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (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.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the PIGQ Gene Neurodevelopmental Disorder NGS Genetic Test is to detect pathogenic mutations in the PIGQ gene using NGS technology for confirming diagnosis, informing treatment strategies, and facilitating genetic counseling and family planning.

Test Code
1775
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with PIGQ gene neurodevelopmental disorder.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture or a finger prick onto an FTA card, following sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising and ensure proper sample labeling.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, review clinical history, and draw a family pedigree chart.
2
During the Test:Sample collection, DNA extraction, and NGS analysis in the laboratory.
3
After the Test:Report generation, result interpretation, and follow-up genetic counseling for the patient and family.

About This Test

Who Should Get This Test

The purpose of the PIGQ Gene Neurodevelopmental Disorder NGS Genetic Test is to detect pathogenic mutations in the PIGQ gene using NGS technology for confirming diagnosis, informing treatment strategies, and facilitating genetic counseling and family planning.

How to Prepare

  • Use sterile EDTA tubes or FTA cards for collection
  • Label the sample accurately with patient details
  • Store at ambient room temperature (15-30°C)
  • Transport to the laboratory within 48 hours of collection

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for PIGQ gene disorder allows for timely intervention, management, and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood (if using blood sample)
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples are stable at room temperature for up to 48 hours
FTA cards are stable at room temperature for extended periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Unlabeled or mislabeled samples
  • Samples not stored or transported correctly

Understanding Your Results

Results from the PIGQ Gene NGS Test are analyzed and interpreted by clinical geneticists. A positive result indicates the presence of pathogenic variants in the PIGQ gene, confirming PIGQ gene neurodevelopmental disorder, while a negative result suggests no pathogenic variants were detected.
📊

Positive

Pathogenic variant(s) detected in the PIGQ gene, consistent with a diagnosis of PIGQ gene neurodevelopmental disorder. Genetic counseling and clinical correlation are recommended.

📊

Negative

No pathogenic variants detected in the PIGQ gene. Clinical correlation is advised, as symptoms may be due to other genetic or environmental factors.

📊

Variant of uncertain significance (VUS)

A genetic variant was found, but its clinical significance is unclear. Further testing, family studies, or longitudinal follow-up may be necessary.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms such as developmental delay, intellectual disability, seizures, or hypotonia are present, especially with a family history of similar conditions. Genetic testing should be considered for confirmation.

Limitations

  • ⚠May not detect all possible genetic variants in the PIGQ gene
  • ⚠Results require interpretation by a qualified geneticist or genetic counselor
  • ⚠Does not rule out other genetic or non-genetic causes of neurodevelopmental disorders

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Infection (rare)
  • ●Emotional impact of results, such as anxiety or stress

Interfering Factors

  • ●Sample contamination
  • ●Hemolyzed or degraded blood sample
  • ●Incorrect sample handling or storage

Frequently Asked Questions

What is PIGQ Gene Neurodevelopmental Disorder?
It is a rare genetic disorder caused by mutations in the PIGQ gene, leading to developmental delays, intellectual disability, and other neurological symptoms.
What are the common symptoms of PIGQ gene disorder?
Common symptoms include developmental delay, intellectual disability, speech difficulties, seizures, hypotonia, and behavioral problems.
How is PIGQ gene disorder diagnosed?
Diagnosis is confirmed through genetic testing, such as Next-Generation Sequencing (NGS), to identify mutations in the PIGQ gene.
What is the cost of the PIGQ related NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What is the turnaround time for receiving test results?
Results are typically available within 3 to 4 weeks after sample collection.
How accurate is the NGS genetic test for PIGQ disorder?
NGS technology is highly accurate for detecting genetic variants, but results should be interpreted by a genetic specialist in clinical context.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require different methods and genetic counseling.
What should I do before getting the test?
Provide clinical history and undergo genetic counseling to understand the test process and implications.
How do I interpret the test results?
Results are interpreted by geneticists; a positive result indicates pathogenic variants, while a negative result means no variants detected. Consult a genetic counselor for guidance.
Is genetic counseling included with the test?
Yes, genetic counseling is part of the service to assist with result interpretation and family planning.
Are there any risks associated with the genetic test?
Risks are minimal, such as minor bruising from blood draw. Emotional impact is possible, so counseling is provided.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference 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.

LIMS Integration

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.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.