HSPD1 Gene Leukodystrophy hypomyelinating type 4 NGS Genetic Test
Short Name: HSPD1 NGS Genetic Test
Also known as: HSPD1 Gene Mutation Analysis, Hypomyelinating Leukodystrophy Type 4 Genetic Test, HSP60 Gene Sequencing
HSPD1 Gene Leukodystrophy hypomyelinating type 4 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 after the laboratory receives the sample.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm or exclude a diagnosis of leukodystrophy hypomyelinating type 4 by identifying pathogenic mutations in the HSPD1 gene. It also helps in carrier detection, family risk assessment, and reproductive planning.
- Test Code
- 4192
- ICD Code
- G31.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A physician’s referral or genetic counseling is recommended prior to testing. Patient must provide written informed consent for genetic testing.
Method: Peripheral blood draw or Fingerstick blood spot
Laboratory Analysis
Blood is drawn from a peripheral vein or collected via a fingerstick onto an FTA card. For children, a smaller volume may be required.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature for DNA extraction.
Timeline: 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 confirm or exclude a diagnosis of leukodystrophy hypomyelinating type 4 by identifying pathogenic mutations in the HSPD1 gene. It also helps in carrier detection, family risk assessment, and reproductive planning.
How to Prepare
- Inform your doctor about any anticoagulant medications.
- Avoid blood transfusion for at least 72 hours prior to sample collection.
- For FTA card, ensure the spots are saturated and dried completely.
- Label the sample correctly with patient identifier and date of birth.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"In my practice, I recommend HSPD1 NGS testing for pediatric patients with unexplained hypomyelination on MRI. Early genetic confirmation can guide patient management and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient blood volume or FTA spots
- Haemolysed or clotted sample
- Unlabelled or mislabeled sample
- Sample in non-EDTA tube containing heparin (inhibits PCR)
Understanding Your Results
Consult a neurologist or clinical geneticist if the test is positive, if symptoms persist despite a negative result, or if you are planning a family and are known to carry an HSPD1 mutation.
Limitations
- ⚠This test detects point mutations and small indels in the HSPD1 coding regions and splice junctions. It does not detect large deletions, duplications, or deep intronic variants without functional impact.
- ⚠Variant classification may be uncertain for novel or rare variants.
- ⚠Results are interpreted in the context of the patient's clinical presentation and family history.
Risks & Considerations
- ●Minor bruising at the blood draw site
- ●Dizziness or faintness during blood draw
- ●Psychological stress from a potentially positive genetic result
Interfering Factors
- ●Sample contamination or low DNA concentration
- ●Mosaicism below analytical sensitivity
- ●Consanguinity in the family may complicate segregation analysis
- ●Very rare large deletions/duplications may not be detected by standard NGS bioinformatics pipelines
Compare With Similar Tests
| Test | HSPD1 Gene Leukodystrophy hypomyelinating type 4 NGS Genetic Test | HSPD1 NGS Genetic Test | Leukodystrophy NGS Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | HSPD1 Gene Leukodystrophy hypomyelinating type 4 NGS Genetic Test |
Frequently Asked Questions
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