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PEX1 Gene Heimler syndrome type 1 NGS Genetic Test

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PEX1 Gene Heimler syndrome type 1 NGS Genetic Test

Short Name: Heimler Syndrome Type 1 Genetic Test

Also known as: PEX1-Related Peroxisome Biogenesis Disorder, Heimler Syndrome Type 1

PEX1 Gene Heimler syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS 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 3, 2026

Overview

The purpose of the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test is to identify mutations in the PEX1 gene that cause Heimler Syndrome Type 1, enabling accurate diagnosis, informed treatment decisions, and genetic counseling for affected individuals and their families.

Test Code
4956
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 Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Heimler syndrome are recommended before testing.

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed and shipped to the laboratory for NGS analysis. Ensure proper handling to maintain sample integrity.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Blood sample collection via venipuncture or FTA card. Procedure is quick and minimally invasive.
3
After the Test:Wait for 3 to 4 weeks for results. Genetic counseling is recommended to discuss findings.

About This Test

Who Should Get This Test

The purpose of the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test is to identify mutations in the PEX1 gene that cause Heimler Syndrome Type 1, enabling accurate diagnosis, informed treatment decisions, and genetic counseling for affected individuals and their families.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Store samples at ambient room temperature if not processed immediately

Doctor's Notes

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

"Genetic testing is crucial for early diagnosis and management of Heimler syndrome, enabling personalized care and family counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results from the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test indicate the presence or absence of pathogenic variants in the PEX1 gene. Positive results confirm a diagnosis of Heimler Syndrome Type 1, while negative results may require further clinical evaluation.
📊

Positive for pathogenic variants

Confirms diagnosis of Heimler Syndrome Type 1. Genetic counseling and management planning are recommended.

📊

Negative for pathogenic variants

No mutations detected in PEX1 gene. Consider other genetic or clinical causes for symptoms.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as cognitive impairment, seizures, or visual problems are present, or if there is a family history of genetic disorders. Genetic counseling is advised before and after testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage

Compare With Similar Tests

TestPEX1 Gene Heimler syndrome type 1 NGS Genetic TestSanger Sequencing for PEX1Whole Exome SequencingPeroxisomal Disorder Panel
ComparisonPEX1 Gene Heimler syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is Heimler Syndrome Type 1?
Heimler Syndrome Type 1 is a rare genetic disorder caused by mutations in the PEX1 gene, affecting peroxisome function and leading to symptoms like cognitive impairment, seizures, and visual problems.
What is the cost of the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the PEX1 gene from a blood or DNA sample.
What are the symptoms of Heimler Syndrome Type 1?
Symptoms include cognitive impairment, seizures, poor muscle tone, liver or kidney abnormalities, visual problems, and bone/joint issues.
Who should get this test?
Individuals with symptoms of Heimler syndrome or a family history of the disorder should consider this test.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What sample type is needed?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Can this test diagnose other genetic disorders?
This test specifically targets PEX1 gene mutations for Heimler Syndrome Type 1. Other tests may be needed for different conditions.
What should I do after receiving the results?
Consult a genetic counselor or healthcare professional to interpret results and discuss management options.
Is the test covered by insurance?
Coverage depends on your insurance plan. Check with your provider for details.
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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