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TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test

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TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test

Short Name: TREM2 PLOSL NGS Genetic Test

Also known as: Nasu-Hakola disease, PLOSL, TREM2-associated leukoencephalopathy

TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 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 Results are usually available within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Single Gene 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 identify disease-causing variants in the TREM2 gene associated with PLOSL. It is used to confirm a clinical diagnosis, differentiate from other genetic dementias and leukoencephalopathies, guide genetic counseling, and offer cascade testing for at-risk family members.

Test Code
4462
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are usually available within 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No fasting is required. Please provide a complete clinical history, imaging findings and prior treatment details. A genetic counseling session is recommended to draw a three-generation family pedigree and to obtain informed consent.

Method: Peripheral blood venipuncture or dried blood spot on FTA card

Step 2

Laboratory Analysis

A small blood sample is drawn from a vein. If using an FTA card, one drop of blood is applied to the card and allowed to air dry before transport.

Step 3

Report Delivery

You can resume normal diet and activities immediately. The sample will be transported to the laboratory, and the report with raw data files will be delivered in 3 to 4 weeks.

Timeline: Results are usually available within 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. A doctor's referral and pre-test genetic counseling are recommended. Please share relevant imaging, clinical notes and family history.
2
During the Test:A blood sample is collected by a trained phlebotomist. For FTA cards, a small prick provides one drop of blood on the card.
3
After the Test:There are no restrictions. The laboratory will process the sample and release the clinical report along with FASTQ and VCF raw data files.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the TREM2 gene associated with PLOSL. It is used to confirm a clinical diagnosis, differentiate from other genetic dementias and leukoencephalopathies, guide genetic counseling, and offer cascade testing for at-risk family members.

How to Prepare

  • No fasting is required
  • Use an EDTA vacutainer for blood collection
  • Label the sample tube clearly with patient name and ID
  • If using FTA card, allow the blood spot to dry completely
  • Transport the sample at ambient temperature as per laboratory guidelines

Doctor's Notes

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

"Genetic testing for PLOSL should be offered only after clinician evaluation and pre-test genetic counseling. A negative NGS result does not exclude large structural variants; variants of uncertain significance require family segregation analysis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer / FTA card
Collection MethodPeripheral blood venipuncture or dried blood spot on FTA card

Sample Stability

Blood (EDTA)
Blood (EDTA)
Extracted DNA
FTA card
Sample Rejection Criteria:
  • Haemolyzed or clotted blood sample
  • Insufficient quantity of blood or DNA
  • Incorrect or missing patient identification
  • Wrong sample type
  • Damaged or leaking sample container

Understanding Your Results

Interpretation should be made by a certified clinical geneticist in conjunction with the patient's clinical and radiological findings. Identification of a pathogenic or likely pathogenic variant in TREM2 supports the diagnosis of PLOSL; absence of a reportable variant reduces the probability of TREM2-associated disease but does not fully exclude it.
Positive: A pathogenic or likely pathogenic variant in TREM2 is identified in homozygous, compound heterozygous or heterozygous state with a compatible clinical phenotype.
Carrier: A single pathogenic variant in TREM2 is identified in an asymptomatic person, indicating carrier status for autosomal recessive PLOSL.
Negative: No reportable pathogenic variant is identified; other genes such as TYROBP should be considered.
VUS: A variant of uncertain significance is identified; further family and functional studies may be required.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist when you or a family member have early-onset dementia, recurrent unexplained fractures, progressive gait difficulty, neuropsychiatric symptoms, or a family history of PLOSL. Genetic counseling before and after testing is essential.

Limitations

  • ⚠NGS may not detect large gene rearrangements, deep intronic mutations, mitochondrial variants or methylation changes
  • ⚠Variants of uncertain significance may require further familial segregation studies
  • ⚠Genetic mosaicism may lead to false-negative results from blood-derived DNA
  • ⚠A negative TREM2 result does not exclude PLOSL caused by variants in TYROBP or other genes
  • ⚠Preventive / predictive testing in minors should only be done after professional genetic counseling

Risks & Considerations

  • ●Minimal pain or bruising at the venipuncture site
  • ●Slight bleeding or hematoma
  • ●Dizziness or fainting during blood collection

Interfering Factors

  • ●Recent bone marrow transplant or stem cell therapy may cause haematopoietic chimerism
  • ●Blood transfusion within the last 3 months may dilute leukocyte-derived DNA
  • ●Contaminated, haemolyzed or clotted samples may affect DNA quality
  • ●Inadequate clinical or family history may impair variant interpretation

Compare With Similar Tests

TestTREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic TestTREM2 Gene NGSSanger SequencingWhole Exome Sequencing
ComparisonTREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test

Frequently Asked Questions

What is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)?
PLOSL, also called Nasu-Hakola disease, is a rare autosomal recessive genetic condition caused by variants in TREM2 or TYROBP genes. It affects the bones and brain, producing bone cysts, recurrent fractures and progressive dementia.
What does the TREM2 gene do?
TREM2 provides instructions for a protein on immune cells, especially microglia in the brain and osteoclasts in bone. It helps clear debris, regulate inflammation and maintain homeostasis; loss of TREM2 function underlies PLOSL.
How is the TREM2 gene NGS test performed?
DNA is extracted from a blood or FTA card sample. The TREM2 gene is enriched and sequenced using next-generation sequencing technology. The sequence is compared with reference sequences and variant databases.
Why is NGS recommended instead of Sanger sequencing for PLOSL?
NGS provides high-depth coverage of the entire TREM2 coding region, splice sites and flanking intronic regions in a single assay, improving analytical sensitivity and speed compared with sequential exon-by-exon Sanger sequencing.
What sample types are accepted for this test?
Peripheral blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card are accepted. Home sample collection is available across many cities in India.
Is fasting required before the TREM2 gene NGS test?
No, fasting is not required. There are no dietary restrictions before blood collection for this genetic test.
How long does it take to get the report?
The report is generally issued within 3 to 4 weeks after the sample reaches the laboratory.
Will I receive raw data files with my report?
Yes. DNA Labs India provides raw data in FASTQ and VCF formats along with the clinical report. You can ask for these files from any testing laboratory for full transparency.
Can a negative TREM2 NGS test rule out PLOSL?
A negative TREM2 result reduces the probability of TREM2-associated PLOSL, but does not completely rule out the disease. PLOSL can also be caused by variants in TYROBP, and NGS may miss certain structural or deep intronic variants.
What is the cost of the TREM2 gene PLOSL NGS genetic test in India?
At DNA Labs India, the cost is Rs 20000.0 (INR 20,000). This includes home sample collection, clinical interpretation and raw data files.
Does insurance cover this genetic test?
Coverage depends on the patient's policy and the clinical indication. Some private health plans may cover genetic testing when ordered by a physician. Government schemes such as PMJAY, CGHS, ECHS and ESIC are not generally covered unless the policy is updated; please confirm with your insurer.
Why is genetic counseling important before and after this test?
Genetic counseling helps document a three-generation pedigree, explain the inheritance pattern, discuss reproductive options, obtain informed consent, and understand the implications of positive, negative or uncertain results for family members.
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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