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ULK2 Gene Smith-Magenis syndrome, ULK2 related NGS Genetic Test

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ULK2 Gene Smith-Magenis syndrome, ULK2 related NGS Genetic Test

Short Name: ULK2 NGS Test

Also known as: ULK2 Gene Sequencing, Smith-Magenis Syndrome Related Genetic Test, ULK2 Gene Autophagy Disorder Test

ULK2 Gene Smith-Magenis syndrome, ULK2 related 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 The final report will be delivered within 3 to 4 weeks from the day the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to aid in the diagnosis of ULK2-related neurodevelopmental disorders, including Smith-Magenis syndrome spectrum, by detecting disease-causing variants in the ULK2 gene using next-generation sequencing technology.

Test Code
4515
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The final report will be delivered within 3 to 4 weeks from the day the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is required. Please carry any previous medical records, counselling notes, and family history information to the appointment.

Method: Peripheral blood draw / dried blood spot on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood from a vein in the arm. For FTA card, a few drops of blood will be placed onto the card and allowed to dry.

Step 3

Report Delivery

No specific precautions are required. You can resume normal activities immediately. The sample will be transported to the laboratory under controlled temperature.

Timeline: The final report will be delivered within 3 to 4 weeks from the day the sample is received at the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session is recommended before the test to discuss the purpose, potential benefits, risks, and limitations of ULK2 gene sequencing.
2
During the Test:For a blood sample, a simple venipuncture is performed. For an FTA card, a fingerstick or heel-prick is collected onto the card. The process takes only a few minutes and requires no anaesthesia.
3
After the Test:No specific care is required after sample collection. You will receive updates on your sample status and report delivery via SMS or email.

About This Test

Who Should Get This Test

The purpose of this test is to aid in the diagnosis of ULK2-related neurodevelopmental disorders, including Smith-Magenis syndrome spectrum, by detecting disease-causing variants in the ULK2 gene using next-generation sequencing technology.

How to Prepare

  • No fasting is required for this genetic test
  • Please bring a valid ID and prescription/referral if available
  • For FTA card, ensure the blood spot is completely dry before storing in the sleeve
  • Labels on the sample should include full name and date of birth

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test should be interpreted in the context of a full clinical evaluation for Smith-Magenis syndrome. Genetic counselling before and after testing is essential to understand the implications of the results."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumePeripheral blood: 4-5 ml in EDTA tube; Extracted DNA: 3-5 µg; FTA card: 1-2 spots
ContainerEDTA Tube, DNA vial, or FTA Card
Collection MethodPeripheral blood draw / dried blood spot on FTA card

Sample Stability

Whole blood in EDTA tube: stable for up to 7 days at 2-8°C
Extracted DNA: stable for 1 year at -20°C
FTA card blood spot: stable for up to 6 months at room temperature
Sample Rejection Criteria:
  • Clotted or hemolysed blood sample
  • Sample with insufficient quantity
  • Improperly labelled sample
  • Sample leaking from the container
  • FTA card not properly dried

Understanding Your Results

This NGS test identifies sequence variants in the ULK2 gene. Results must be interpreted by a qualified geneticist in the context of the patient's clinical presentation, family history, and other laboratory findings.
📊

Pathogenic variant detected

The test has identified a disease-causing variant in the ULK2 gene. This finding may support a diagnosis of ULK2-related Smith-Magenis syndrome spectrum. Confirmatory testing and family segregation studies are recommended.

📊

Variant of uncertain significance (VUS)

A genetic variant was found whose clinical significance is not yet established. Additional studies, including family testing and functional analysis, may be recommended.

📊

No pathogenic variant detected

No clinically significant variant was identified in the ULK2 gene. Other genetic causes such as RAI1 deletion or mutation should still be considered.

⚠️ When to Consult a Doctor:

If you or your child have symptoms suggestive of Smith-Magenis syndrome, or if there is a known family history of ULK2-related conditions, please consult a clinical geneticist for a comprehensive assessment and genetic counselling.

Limitations

  • ⚠NGS may not detect large deletions, duplications, or structural rearrangements involving ULK2
  • ⚠This test evaluates only the ULK2 gene; other genes associated with Smith-Magenis syndrome, such as RAI1, are not included in this panel
  • ⚠A negative result does not exclude the possibility of Smith-Magenis syndrome if clinical suspicion remains high

Risks & Considerations

  • ●Slight pain or bruising at the blood collection site
  • ●Minor bleeding or haematoma formation
  • ●Dizziness or fainting during blood draw

Interfering Factors

  • ●DNA degradation
  • ●Contamination during sample collection
  • ●PCR inhibitors in the sample
  • ●Low DNA concentration

Compare With Similar Tests

TestULK2 Gene Smith-Magenis syndrome, ULK2 related NGS Genetic TestRAI1 Gene SequencingChromosomal Microarray (CMA)FISH for 17p11.2 Deletion
ComparisonULK2 Gene Smith-Magenis syndrome, ULK2 related NGS Genetic Test

Frequently Asked Questions

What is the ULK2 gene?
ULK2 is a gene located on chromosome 17 that plays a role in autophagy and neuronal development. It has been studied in the context of neurodevelopmental disorders, including Smith-Magenis syndrome.
What is Smith-Magenis syndrome?
Smith-Magenis syndrome is a rare genetic disorder characterised by developmental delay, intellectual disability, sleep disturbances, distinctive facial features, and behavioural challenges such as self-hugging and hand biting.
Is ULK2 mutation the main cause of Smith-Magenis syndrome?
No. Most cases of Smith-Magenis syndrome are caused by deletion or mutation of the RAI1 gene. ULK2 is located nearby and may contribute to the phenotype in some individuals, but it is not the primary cause.
What does this NGS test detect?
This test detects sequence variants (mutations) in the ULK2 gene using next-generation sequencing technology.
What sample is required for this test?
The test accepts peripheral blood in an EDTA tube, extracted DNA, or a dried blood spot on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
What is the cost of the ULK2 gene NGS test?
The test is priced at Rs 20000, which includes free home sample collection in selected cities across India.
How long will it take to get the reports?
Reports are typically available within 3 to 4 weeks after the sample is received by the laboratory.
Can this test diagnose Smith-Magenis syndrome definitively?
A positive result with a pathogenic ULK2 variant may support a diagnosis, but clinical evaluation and genetic counselling are essential. Most SMS cases are due to RAI1 alterations, so a negative ULK2 test does not rule out SMS.
Who should consider getting this test?
Individuals with features overlapping Smith-Magenis syndrome, especially if RAI1 mutation and 17p11.2 deletion tests were negative, or those with a family history of ULK2 variants, may consider this test.
Is genetic counselling available with this test?
Yes, pre-test and post-test genetic counselling is available as part of the service. Our genetic counsellors will help you understand the implications of your results.
In which cities is home sample collection available?
We offer free home sample collection across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and 125+ other locations.
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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