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POLR3A Gene Leukodystrophy hypomyelinating type 7 NGS Genetic Test

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POLR3A Gene Leukodystrophy hypomyelinating type 7 NGS Genetic Test

Short Name: POLR3A Leukodystrophy Type 7 NGS Test

Also known as: POLR3A Gene Test, Hypomyelinating Leukodystrophy Type 7 Genetic Test, POLR3A Leukodystrophy NGS Panel

POLR3A Gene Leukodystrophy hypomyelinating type 7 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 Samples are processed on receipt; reports are issued within 3 to 4 weeks. The report includes clinical interpretation and raw data files.. 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 7, 2026

Overview

The purpose of this test is to sequence the POLR3A gene and identify clinically significant variants that may explain signs and symptoms of hypomyelinating leukodystrophy type 7. The result helps clinicians make a molecular diagnosis, guide surveillance and management, and provide accurate inheritance and recurrence-risk counselling.

Test Code
4198
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Samples are processed on receipt; reports are issued within 3 to 4 weeks. The report includes clinical interpretation and raw data files.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please provide the referring physician's clinical notes, pedigree chart, MRI/EEG reports, and any previous genetic test results.

Method: Blood draw by phlebotomist, FTA card blood spot, or extracted DNA submission

Step 2

Laboratory Analysis

A small blood sample will be collected in an EDTA tube, or a blood spot will be placed on an FTA card depending on the method chosen.

Step 3

Report Delivery

No special precautions are needed. The sample should be transported to the laboratory according to the provided instructions.

Timeline: Samples are processed on receipt; reports are issued within 3 to 4 weeks. The report includes clinical interpretation and raw data files.

Patient Instructions

1
Before the Test:No fasting is needed. A referral or clinical history is helpful. Please share previous MRI, EEG, and genetic reports if available.
2
During the Test:A sample of blood or one drop on FTA card will be collected. The procedure is quick and routine.
3
After the Test:No activity restrictions. You may return to your usual routine immediately.

About This Test

Who Should Get This Test

The purpose of this test is to sequence the POLR3A gene and identify clinically significant variants that may explain signs and symptoms of hypomyelinating leukodystrophy type 7. The result helps clinicians make a molecular diagnosis, guide surveillance and management, and provide accurate inheritance and recurrence-risk counselling.

How to Prepare

  • For blood sample: use EDTA vacutainer and mix gently.
  • For FTA card: apply one drop of blood to each marked circle and air-dry.
  • For extracted DNA: submit the minimum quantity specified by the laboratory.
  • Label the sample clearly with patient name, date of collection, and contact number.

Doctor's Notes

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

"Genetic confirmation is important in suspected leukodystrophy because symptoms overlap with other white matter disorders. A definitive molecular diagnosis enables accurate counselling, prognosis, and family risk assessment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per DNA Labs India sample collection protocol
ContainerEDTA tube (blood), FTA card, or sterile DNA tube
Collection MethodBlood draw by phlebotomist, FTA card blood spot, or extracted DNA submission

Sample Stability

FTA card: stable at room temperature for several weeks.
Whole blood EDTA: 24-48 hours at 2-8°C or ambient; avoid freezing.
Extracted DNA: stable at -20°C or below for long-term storage.
Sample Rejection Criteria:
  • Insufficient blood or DNA quantity
  • Clotted or haemolysed blood sample
  • Mislabeled sample
  • Sample not accompanied by consent or clinical requisition

Understanding Your Results

This test is a single-gene molecular diagnostic test. Results should be read in conjunction with the patient's clinical presentation, brain MRI findings, and family history.
Pathogenic variant detected: molecular diagnosis is confirmed; genetic counselling and family member testing are recommended.
Likely pathogenic variant detected: supports the diagnosis; follow-up family studies may be useful.
Variant of uncertain significance (VUS): not diagnostic; further testing or research may be advised.
No pathogenic variant detected: does not exclude POLR3A-related disorder if clinical suspicion is strong; consider other genes and re-evaluation.
⚠️ When to Consult a Doctor:

If you receive a positive, uncertain, or negative test result but still have clinical signs of leukodystrophy, please discuss the result with your referring neurologist or clinical geneticist before making any treatment or reproductive decisions.

Limitations

  • ⚠The test is specific to POLR3A; variants in other leukodystrophy genes will not be detected.
  • ⚠NGS may not reliably detect large deletions/duplications, structural rearrangements, deep intronic variants, or repeat expansions.
  • ⚠Variants of uncertain significance may be reported; additional studies may be needed.
  • ⚠A negative result does not rule out all genetic or non-genetic causes of hypomyelination.

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●No significant risk with FTA card collection
  • ●No radiation exposure or contrast agent is used

Interfering Factors

  • ●Blood transfusion within 2 weeks may cause DNA mixture; if possible, collect sample before transfusion.
  • ●Recent bone marrow transplantation may confound result interpretation.
  • ●Poor sample quality, low DNA yield, or degradation can lead to insufficient coverage.
  • ●Mislabeling or sample mix-up can cause an incorrect result.

Compare With Similar Tests

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Frequently Asked Questions

What is the POLR3A gene leukodystrophy type 7 NGS genetic test?
It is a next-generation sequencing test that reads the POLR3A gene to look for mutations associated with hypomyelinating leukodystrophy type 7.
What sample do I need to provide?
Blood or extracted DNA or one drop of blood on an FTA card can be used for this test.
Is fasting required before the test?
No, no fasting is required for this genetic test.
Who should take this test?
People with symptoms or MRI findings suggestive of hypomyelinating leukodystrophy, or with a family history of a POLR3A mutation, may benefit from this test.
How long will the report take?
The report is generally ready in 3 to 4 weeks after sample receipt.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India. It includes sample collection, testing, analysis and the clinical report.
Why does DNA Labs India provide FASTQ and VCF files?
These raw data files allow patients and physicians to re-analyse the sequencing data in the future for transparency and clinical follow-up.
What variants can this test detect?
NGS can detect single nucleotide variants and small insertions/deletions in the coding and splice-site regions of the POLR3A gene.
What does a variant of uncertain significance (VUS) mean?
A VUS is a change in the gene whose effect on health is not yet known. It is not enough for diagnosis; further family testing or functional studies may be recommended.
Can this test be used for prenatal diagnosis?
This is a diagnostic test for a symptomatic individual. For prenatal testing, please consult your clinical geneticist and testing laboratory before proceeding.
Is home sample collection available?
Yes, DNA Labs India provides free home sample collection for online bookings in many cities across India.
What should I do if the test result is negative?
A negative result means no pathogenic variant was found in POLR3A. If clinical suspicion remains, your doctor may consider a broader leukodystrophy panel or whole exome sequencing.
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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