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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: PEX1 Heimler Syndrome NGS Test

Also known as: PEX1 Gene Mutation Analysis, Heimler Syndrome Type 1 DNA Test, Peroxisome Biogenesis Disorder PEX1 Test, PEX1 Sequencing Test, Heimler Syndrome Genetic Panel

PEX1 Gene Heimler syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Variant Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PEX1 gene that cause Heimler Syndrome Type 1. This test is used for confirmatory diagnosis in individuals presenting with clinical features of the disorder, carrier detection in family members, prenatal diagnosis in at-risk pregnancies, and genetic counseling to guide family planning decisions. It is also valuable in differentiating Heimler Syndrome Type 1 from other peroxisome biogenesis disorders and sensorineural hearing loss syndromes.

Test Code
2350
ICD Code
Q87.89
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
3 to 4 Weeks from sample receipt at the laboratory
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Variant Analysis
Step 1

Sample Collection

Genetic counseling session is recommended before sample collection. A detailed family pedigree chart should be drawn to identify affected family members and inheritance patterns. Clinical history of the patient, including symptoms of hearing loss, dental abnormalities, and visual impairment, should be documented. Bring a valid government-issued photo ID and the referring physician's prescription. No fasting is required for this test.

Method: Venipuncture / FTA Card finger-prick

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) tube under aseptic conditions. Alternatively, a single drop of blood can be collected on an FTA card. The sample will be labeled with the patient's details and transported to the laboratory under appropriate cold-chain conditions.

Step 3

Report Delivery

After sample collection, apply gentle pressure with sterile cotton at the venipuncture site for 3-5 minutes. No specific post-collection restrictions are required. The sample will be processed in our NGS laboratory and results will be available within 3 to 4 weeks. A genetic counseling session will be scheduled to discuss the results.

Timeline: 3 to 4 Weeks from sample receipt at the laboratory

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is recommended to discuss the implications of the test, obtain informed consent, and document the family pedigree. No fasting is required. Carry a valid photo ID, the referring physician's prescription, and any previous genetic test reports if available.
2
During the Test:A 3-5 mL blood sample will be collected via venipuncture into an EDTA tube, or a single blood drop will be applied to an FTA card. The procedure is quick and minimally invasive, similar to a routine blood draw. Home sample collection is available in many cities across India.
3
After the Test:After the blood draw, a cotton ball will be pressed against the puncture site. Mild bruising may occur. Results are typically available within 3 to 4 weeks. A post-test genetic counseling session will be arranged to discuss the findings, interpretation, and next steps. Digital reports will be shared via the online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PEX1 gene that cause Heimler Syndrome Type 1. This test is used for confirmatory diagnosis in individuals presenting with clinical features of the disorder, carrier detection in family members, prenatal diagnosis in at-risk pregnancies, and genetic counseling to guide family planning decisions. It is also valuable in differentiating Heimler Syndrome Type 1 from other peroxisome biogenesis disorders and sensorineural hearing loss syndromes.

How to Prepare

  • No fasting required prior to sample collection
  • Bring a valid photo ID and physician's prescription
  • Provide detailed clinical history and family pedigree information
  • Avoid blood collection within 4 weeks of a blood transfusion
  • Schedule a pre-test genetic counseling session if not already completed
  • Ensure the sample is collected in an EDTA tube or on an FTA card
  • Home sample collection is available in select cities across India

Doctor's Notes

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

"Heimler Syndrome Type 1 is inherited in an autosomal recessive pattern. Couples with a family history of peroxisomal disorders or consanguineous marriages should consider carrier screening with PEX1 gene analysis. Early identification through prenatal or preconception genetic testing enables informed family planning decisions. If a child presents with sensorineural hearing loss, enamel hypoplasia, and visual impairment, PEX1 gene testing should be discussed with the family and a referral for genetic evaluation initiated promptly."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-5 mL whole blood
ContainerEDTA (Lavender Top) tube or FTA Card
Collection MethodVenipuncture / FTA Card finger-prick

Sample Stability

Whole blood in EDTA tube at 2-8°C
Extracted DNA at -20°C
Blood on FTA card at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Samples collected in incorrect (non-EDTA) tubes
  • Samples without proper labeling or patient identification
  • Severely degraded DNA samples with insufficient quality metrics
  • Samples without accompanying clinical history or physician prescription

Understanding Your Results

The PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test report provides a comprehensive analysis of variants identified in the PEX1 gene. Variants are classified according to the ACMG/AMP 2015 guidelines. The interpretation should always be performed in conjunction with the patient's clinical presentation, family history, and other diagnostic findings by a qualified clinical geneticist.
📊

One or more pathogenic variants identified in the PEX1 gene. If two pathogenic variants are detected in trans (homozygous or compound heterozygous), this is consistent with a diagnosis of Heimler Syndrome Type 1 or a related PEX1-associated peroxisome biogenesis disorder. Clinical correlation is essential.

📊

One or more likely pathogenic variants identified. Strong supporting evidence exists for disease causation. Clinical correlation and family segregation analysis are recommended for confirmation.

📊

A variant was identified that currently lacks sufficient evidence to classify it as pathogenic or benign. This result is not diagnostic. Periodic re-evaluation is recommended as new research data becomes available.

📊

A variant was identified that is unlikely to be disease-causing based on current evidence. This result generally does not support a clinical diagnosis of Heimler Syndrome Type 1.

📊

No pathogenic or likely pathogenic variants were identified in the PEX1 gene. This result does not completely exclude Heimler Syndrome Type 1, as mutations in non-targeted regions or other genes may be responsible. Clinical correlation is advised.

📊

A single heterozygous pathogenic or likely pathogenic variant in PEX1 was identified. The individual is a carrier of Heimler Syndrome Type 1 and is typically unaffected. Carrier testing of the partner and genetic counseling for family planning are recommended.

⚠️ When to Consult a Doctor:

Consult your doctor or genetic counselor if the test reveals pathogenic or likely pathogenic variants in the PEX1 gene, if a Variant of Uncertain Significance (VUS) is identified, or if clinical symptoms persist despite a negative result. Immediate consultation is recommended for families planning pregnancies where PEX1 mutations have been identified. Additionally, consult your physician if the affected individual shows worsening hearing, vision, or dental symptoms requiring multidisciplinary management.

Limitations

  • ⚠This test does not detect large deletions, duplications, or structural rearrangements in the PEX1 gene unless specifically designed to do so
  • ⚠Deep intronic variants and regulatory region mutations outside the targeted sequencing area may not be detected
  • ⚠Results should be interpreted in the context of clinical findings and family history by a qualified geneticist
  • ⚠A negative result does not completely exclude the possibility of Heimler Syndrome Type 1 caused by mutations in non-coding regions or other genes
  • ⚠Variant of Uncertain Significance (VUS) results require periodic reclassification as new evidence emerges

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Emotional impact of receiving a genetic diagnosis or carrier status
  • ●Risk of VUS results causing uncertainty or anxiety without genetic counseling
  • ●Potential implications for insurance and employment in the absence of genetic non-discrimination protections

Interfering Factors

  • ●Degraded or low-quality DNA may affect sequencing accuracy
  • ●Recent blood transfusion within 4 weeks may interfere with results
  • ●Hemolyzed samples may reduce DNA yield and quality
  • ●Presence of pseudogenes or homologous sequences may complicate variant calling

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Frequently Asked Questions

What is Heimler Syndrome Type 1?
Heimler Syndrome Type 1 is a rare autosomal recessive genetic disorder caused by mutations in the PEX1 gene. It is a mild form of peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta (enamel defects), and pigmentary retinopathy affecting vision. Unlike severe peroxisomal disorders such as Zellweger syndrome, Heimler Syndrome Type 1 typically has a milder presentation and a better prognosis.
What causes Heimler Syndrome Type 1?
Heimler Syndrome Type 1 is caused by mutations in the PEX1 gene located on chromosome 7q21.2. The PEX1 gene provides instructions for making a protein essential for peroxisome assembly and function. Peroxisomes are cell organelles that break down fatty acids and detoxify harmful substances. Mutations in PEX1 impair peroxisome biogenesis, leading to the accumulation of toxic metabolites that damage hearing, vision, and dental tissues.
How is Heimler Syndrome Type 1 inherited?
Heimler Syndrome Type 1 follows an autosomal recessive inheritance pattern. This means an affected individual must inherit two mutated copies of the PEX1 gene — one from each parent. Both parents are typically carriers who have one mutated copy and one normal copy. Carriers are generally unaffected. When two carriers have a child, there is a 25% chance the child will be affected, a 50% chance the child will be a carrier, and a 25% chance the child will be neither affected nor a carrier.
What are the common symptoms of Heimler Syndrome Type 1?
The main symptoms of Heimler Syndrome Type 1 include sensorineural hearing loss (which may be progressive), amelogenesis imperfecta resulting in thin, discolored, or fragile tooth enamel, and pigmentary retinopathy causing visual impairment. Some individuals may also experience developmental delays, mild cognitive difficulties, and in rare cases, liver or kidney involvement. The severity of symptoms can vary significantly even among affected members of the same family.
How is Heimler Syndrome Type 1 diagnosed?
Heimler Syndrome Type 1 is diagnosed through a combination of clinical evaluation and genetic testing. Clinical features such as hearing loss, enamel defects, and retinal abnormalities raise suspicion. A comprehensive audiologic examination, ophthalmologic evaluation, and dental assessment are performed. Definitive diagnosis is confirmed through NGS genetic testing of the PEX1 gene, which identifies the causative mutations. Peroxisomal biochemical markers such as very long-chain fatty acids (VLCFA) levels in blood may also be assessed.
What is the PEX1 Gene NGS Genetic Test?
The PEX1 Gene NGS (Next-Generation Sequencing) Genetic Test is a molecular diagnostic test that uses advanced sequencing technology to analyze the entire coding region and flanking intronic sequences of the PEX1 gene. It can detect single nucleotide variants, small insertions, deletions, and splice-site mutations. The test provides comprehensive coverage with high accuracy and is used to confirm a clinical diagnosis of Heimler Syndrome Type 1 or related PEX1-associated conditions.
What sample is required for the PEX1 Gene NGS Genetic Test?
The test requires either 3-5 mL of peripheral venous blood collected in an EDTA (lavender top) tube, extracted DNA from a previous sample, or a single drop of blood applied to an FTA (Flinders Technology Associates) card. No fasting is required. Home sample collection is available in major cities across India through DNA Labs India.
How long does it take to get the results?
The turnaround time for the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test is approximately 3 to 4 weeks from the date of sample receipt at the laboratory. Results are delivered through the online portal, email, or WhatsApp. In certain cases, urgent processing may be available upon request — please contact DNA Labs India for more information.
What is the cost of the PEX1 Gene NGS Genetic Test?
The cost of the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test at DNA Labs India is Rs 20000.0. This price includes the NGS sequencing, bioinformatics analysis, a clinical test report, raw data files (FASTQ and VCF), and a genetic counseling session. Free home sample collection is available for online bookings in select cities across India.
Is genetic counseling recommended before and after this test?
Yes, genetic counseling is strongly recommended both before and after the PEX1 Gene NGS Genetic Test. Pre-test counseling helps the patient and family understand the implications of testing, the inheritance pattern, potential outcomes, and the emotional aspects of genetic diagnosis. Post-test counseling helps interpret the results, discuss management options, recurrence risk for future pregnancies, and available support resources. DNA Labs India includes a genetic counseling session as part of the test package.
Can Heimler Syndrome Type 1 be treated or cured?
There is currently no cure for Heimler Syndrome Type 1. Management is supportive and multidisciplinary. Hearing loss may be managed with hearing aids or cochlear implants. Visual impairment is monitored by an ophthalmologist, and dental care focuses on managing enamel defects through restorative dentistry. Early intervention with speech therapy and educational support can help address developmental and speech delays. Regular monitoring for liver and kidney involvement is recommended. Research into gene therapy and other targeted treatments for peroxisomal disorders is ongoing.
Is the PEX1 Gene NGS Genetic Test available across India?
Yes, DNA Labs India offers the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test across India with free home sample collection available in numerous cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, Jaipur, Lucknow, Chandigarh, and many more. Samples from outstation locations are also accepted. You can book the test online or contact DNA Labs India directly for assistance.
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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