POLR3B Gene Leukodystrophy hypomyelinating type 8 NGS Genetic Test
Short Name: POLR3B NGS Genetic Test
Also known as: Hypomyelinating Leukodystrophy Type 8 Genetic Test, POLR3B Gene Mutation Analysis, POLR3B-Related Leukodystrophy NGS Test
POLR3B Gene Leukodystrophy hypomyelinating type 8 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 Reports are generally delivered within 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic and likely pathogenic variants in the POLR3B gene in patients with clinical or radiological features suggestive of hypomyelinating leukodystrophy type 8. Genetic confirmation supports the clinical diagnosis, aids in distinguishing this condition from other leukodystrophies, and provides a basis for family counselling, carrier testing, and reproductive planning.
- Test Code
- 4197
- CPT Code
- N/A
- ICD Code
- N/A
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally delivered within 3 to 4 weeks after the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Fasting is not required. No special preparation is needed. Please carry any previous MRI reports, clinical records, or referral notes. A pre-test genetic counselling session is recommended to review the family history and obtain informed consent.
Method: Peripheral blood collection / FTA card blood spot submission
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in the arm. If FTA card is used, one drop of blood will be placed on the marked circles. The procedure takes only a few minutes.
Report Delivery
There are no activity restrictions after the blood draw. You can resume normal daily activities immediately. The sample will be sent to the laboratory for NGS analysis and reports will be delivered in 3 to 4 weeks.
Timeline: Reports are generally delivered within 3 to 4 weeks after the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic and likely pathogenic variants in the POLR3B gene in patients with clinical or radiological features suggestive of hypomyelinating leukodystrophy type 8. Genetic confirmation supports the clinical diagnosis, aids in distinguishing this condition from other leukodystrophies, and provides a basis for family counselling, carrier testing, and reproductive planning.
How to Prepare
- No fasting required
- Prefer a doctor's referral if available
- EDTA tube should be filled to the indicated mark
- FTA card should be air-dried and placed in the provided pouch
- Label the sample with the patient's name and date of birth
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test should be interpreted along with a detailed neurological assessment, MRI findings and family history. For at-risk couples, genetic counselling and targeted carrier testing are essential before and during pregnancy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed, clotted, or frozen whole blood
- Insufficient sample quantity
- Unlabeled or mislabeled specimen
- Sample exposed to extreme heat
- Sample container broken or leaking
Understanding Your Results
Positive - pathogenic or likely pathogenic variant detected
Confirms the molecular diagnosis of hypomyelinating leukodystrophy type 8 associated with the POLR3B gene.
Negative - no pathogenic variant detected
No clinically significant variant was identified in the POLR3B gene regions tested. It does not exclude all genetic causes of leukodystrophy.
Variant of uncertain significance (VUS)
A variant was found but its role in disease is not yet clear. Additional family testing and segregation analysis may be helpful.
Consult a neurologist or clinical geneticist if a child or adult shows developmental delay, loss of motor skills, abnormal muscle tone, coordination difficulty, seizures, vision or hearing impairment, or MRI evidence of hypomyelination.
Risks & Considerations
- ●Minimal pain at the blood collection site
- ●Small bruise or redness
- ●Rare risk of local infection
Interfering Factors
- ●Clotted or hemolyzed blood sample
- ●Insufficient quantity of DNA
- ●Contamination during sample collection
- ●Recent allogeneic bone marrow transplant
- ●Recent blood transfusion causing mixed DNA profile
Compare With Similar Tests
| Test | POLR3B Gene Leukodystrophy hypomyelinating type 8 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | POLR3B Gene Leukodystrophy hypomyelinating type 8 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the POLR3B Gene Leukodystrophy Hypomyelinating Type 8 NGS Genetic Test?
What sample type is accepted?
How long will the test take?
Why is this test done?
What is hypomyelinating leukodystrophy type 8?
Does the test detect all leukodystrophies?
Can this test be used for family planning?
Should I have genetic counselling before the test?
What does a positive result mean?
What does a negative result mean?
Will I receive raw genetic data?
Who should order this test?
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