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TYROBP Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test

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TYROBP Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test

Short Name: TYROBP NGS Test

Also known as: Nasu-Hakola Disease Genetic Test, PLOSL Gene Test, TYROBP Mutation Analysis

TYROBP Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generated and made available within 3 to 4 weeks of sample receipt.. 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 NGS genetic test is to identify pathogenic mutations in the TYROBP gene that cause PLOSL, confirm a clinical suspicion, and allow accurate genetic counselling for at-risk family members.

Test Code
4464
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generated and made available within 3 to 4 weeks of sample receipt.
Fasting Required
No
Method
NGS
Step 1

Sample Collection

No fasting or special preparation is needed. A genetic counselling session is recommended before the test to discuss the implications of the results.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A small sample of blood is drawn from a vein in your arm, or a finger-prick blood spot is applied to a FTA card.

Step 3

Report Delivery

You can resume normal activities immediately after sample collection.

Timeline: Reports are generated and made available within 3 to 4 weeks of sample receipt.

Patient Instructions

1
Before the Test:Discuss with your doctor why the test is being ordered. Pre-test genetic counselling is available at DNA Labs India. No specific preparation is required.
2
During the Test:A blood sample is taken by a trained phlebotomist. The procedure takes only a few minutes and is almost painless.
3
After the Test:Your sample is securely transported to our laboratory. Results are delivered in 3-4 weeks, with a detailed clinical report and guidance.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic mutations in the TYROBP gene that cause PLOSL, confirm a clinical suspicion, and allow accurate genetic counselling for at-risk family members.

How to Prepare

  • Use an EDTA vacutainer for blood collection
  • If using FTA card, allow the blood spot to air dry completely
  • Store sample in a zip-lock pouch and ship at ambient temperature
  • Label the sample with patient name and date of collection

Doctor's Notes

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

"Early genetic diagnosis of PLOSL enables patients and families to receive timely care and reproductive counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml (blood) or 1 drop (FTA)
ContainerEDTA tube / FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Whole blood in EDTA: 24-48 hours at 2-8°C or room temperature
FTA card: Stable for months at room temperature
Extracted DNA: Stable for years at -20°C if stored properly
Sample Rejection Criteria:
  • Sample received without proper labelling
  • Clotted or haemolysed blood
  • FTA card not dried or contaminated
  • Insufficient sample quantity

Understanding Your Results

The NGS genetic test detects variants in the TYROBP gene. The result is interpreted by a medical geneticist and a clinical pathology team, and a plan for further management is provided.
Positive for a known pathogenic variant in TYROBP: Confirms diagnosis of PLOSL.
Negative for pathogenic variants in TYROBP: Does not support PLOSL; consider other genetic or acquired causes.
Variant of Uncertain Significance (VUS): Further family studies may help clarify the significance.
Carrier: One pathogenic variant identified in a recessive disorder; individual is a carrier and has no symptoms.
⚠️ When to Consult a Doctor:

If you have symptoms like recurrent bone cysts, early-onset dementia or a family history of PLOSL, consult a neurologist or a medical geneticist to arrange testing and counselling.

Limitations

  • ⚠Detects mutations in TYROBP gene only; mutations in TREM2 gene (also associated with PLOSL) are not covered
  • ⚠Large deletions/duplications may not be detected by NGS sequencing alone
  • ⚠Variants of uncertain significance may require additional family testing
  • ⚠Pre-symptomatic testing in minors may be postponed due to ethical and legal considerations

Risks & Considerations

  • ●Minor bruising at venipuncture site
  • ●Psychological impact of discovering a genetic disorder
  • ●No immediate physical risks from the test itself

Interfering Factors

  • ●Recent blood transfusion (within 2 weeks)
  • ●Clotted or hemolysed blood sample
  • ●Incorrect sample labelling
  • ●FTA card contamination or incomplete drying

Frequently Asked Questions

What is the cost of the TYROBP gene NGS test?
The cost is INR 20,000 at DNA Labs India.
What does the test cost include?
It includes the NGS genetic test, genetic counselling, result interpretation, and free home sample collection.
What sample is required for this test?
A blood sample in EDTA, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before sample collection?
No, fasting is not required for this genetic test.
How long does it take to get the test report?
The report is usually available within 3 to 4 weeks.
What is Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)?
PLOSL is a rare genetic disorder that causes bone cysts and progressive neurological symptoms like dementia and difficulty walking.
How is the TYROBP gene related to PLOSL?
Mutations in the TYROBP gene are one of the known causes of PLOSL. The gene provides instructions for making a protein involved in immune and bone cell signaling.
Who should take this genetic test?
People with symptoms suggesting PLOSL, a family history of the disorder, or unexplained bone cysts and early-onset dementia.
Can this test detect carriers?
Yes, the test can identify a single pathogenic variant, which indicates a carrier status in an autosomal recessive condition.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection in over 200 cities across India.
What is the technique used for this test?
Next-Generation Sequencing (NGS) is used to analyze the TYROBP gene.
Are there any insurance schemes that cover this test?
Currently, the test is not covered under major government schemes like PMJAY or CGHS. Private insurance coverage may vary, so it is advisable to check with your provider.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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