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PIGL Gene CHIME syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PIGL Gene CHIME syndrome NGS Genetic Test

Short Name: PIGL CHIME Syndrome Test

Also known as: CHIME Syndrome Genetic Test, PIGL Gene Analysis

PIGL Gene CHIME syndrome 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.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose CHIME syndrome by identifying pathogenic mutations in the PIGL gene using next-generation sequencing, enabling early intervention and genetic counseling.

Test Code
5714
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

No special preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist or a drop of blood will be collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. Attend a genetic counseling session.
2
During the Test:Sample collection via blood draw or FTA card. Procedure is minimally invasive.
3
After the Test:Results will be available in 3-4 weeks. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose CHIME syndrome by identifying pathogenic mutations in the PIGL gene using next-generation sequencing, enabling early intervention and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label samples correctly
  • Transport at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for CHIME syndrome is crucial for early diagnosis and management. Consult a genetic counselor for personalized advice and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated samples
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PIGL gene. A positive result confirms CHIME syndrome, while a negative result may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of CHIME syndrome. Genetic counseling recommended.

📊

No pathogenic variant detected

CHIME syndrome unlikely, but clinical correlation is advised. Consider other genetic tests.

📊

Variant of uncertain significance

Further family studies or functional analysis may be needed. Consult a geneticist.

⚠️ When to Consult a Doctor:

If symptoms of CHIME syndrome are present, for genetic counseling, or to discuss test results and management options.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of uncertain significance (VUS) may be identified
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is CHIME syndrome?
CHIME syndrome is a rare genetic disorder caused by mutations in the PIGL gene, leading to symptoms like cataracts, hearing loss, and developmental delays.
How is CHIME syndrome diagnosed?
Diagnosis involves genetic testing, such as NGS, to identify mutations in the PIGL gene, along with clinical evaluation.
What does the PIGL gene test involve?
The test uses next-generation sequencing to analyze the PIGL gene for pathogenic variants from a blood or DNA sample.
What is the cost of the test?
The PIGL Gene CHIME Syndrome NGS Genetic Test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of CHIME syndrome, such as congenital cataracts or developmental delays, or those with a family history.
What if the test result is positive?
A positive result confirms CHIME syndrome. Genetic counseling is recommended for management and family planning.
Can the test detect all mutations?
While NGS is comprehensive, it may not detect all mutation types. Variants of uncertain significance may be reported.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling to help understand test results and implications.
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.

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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.

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