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DIS3L2 Gene Perlman Syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DIS3L2 Gene Perlman Syndrome NGS Genetic Test

Short Name: DIS3L2 NGS Test

Also known as: DIS3L2 Gene Sequencing, Perlman Syndrome NGS Panel, DIS3L2 Mutation Analysis

DIS3L2 Gene Perlman Syndrome 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 Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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 confirm a clinical diagnosis of Perlman syndrome by identifying pathogenic mutations in the DIS3L2 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation.

Test Code
5897
CPT Code
81407
ICD Code
Q87.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. A genetic counseling session is recommended before the test to discuss family history and implications.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No restrictions. The sample is sent to the laboratory for analysis.

Timeline: Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No specific preparation required. However, a genetic counseling session is recommended to discuss the purpose, risks, and benefits of testing.
2
During the Test:A blood sample is drawn from a vein in your arm. The procedure takes about 5 minutes.
3
After the Test:You can resume normal activities immediately. Results are typically available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of Perlman syndrome by identifying pathogenic mutations in the DIS3L2 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation.

How to Prepare

  • Ensure the patient's clinical history is provided
  • Use EDTA vacutainer for blood collection
  • For FTA card, apply one drop of blood on the designated circle
  • Label the sample with patient's name and unique ID

Doctor's Notes

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

"Perlman syndrome is a rare overgrowth disorder with high mortality. Early genetic confirmation is crucial for management and family counseling."

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 on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood: 24 hours at room temperature, 7 days at 2-8°C
Extracted DNA: stable for 1 year at -20°C
FTA card: stable for several months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or missing requisition form
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The interpretation of the DIS3L2 gene NGS test is based on the presence or absence of pathogenic variants. A positive result confirms the diagnosis of Perlman syndrome, while a negative result reduces the likelihood but does not completely exclude it.
📊

Positive (pathogenic variant detected)

Confirms diagnosis of Perlman syndrome. Genetic counseling and family screening recommended.

📊

Negative (no pathogenic variant detected)

No mutation found in DIS3L2. Consider other genetic causes if clinical suspicion remains.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its clinical significance is unknown. Further testing of family members may help clarify.

⚠️ When to Consult a Doctor:

If you or your child have symptoms suggestive of Perlman syndrome, or if there is a family history of the condition, consult a clinical geneticist for evaluation and testing.

Limitations

  • ⚠This test does not detect large genomic rearrangements or deep intronic variants
  • ⚠Variant of uncertain significance (VUS) may require further family studies
  • ⚠Negative result does not rule out Perlman syndrome if clinical suspicion is high; other genetic causes may exist

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential for uncertain results (VUS) requiring further testing

Interfering Factors

  • ●Contamination of sample with maternal cells in prenatal testing
  • ●Incomplete gene coverage due to technical limitations
  • ●Presence of large deletions/duplications not detected by standard NGS

Compare With Similar Tests

TestDIS3L2 Gene Perlman Syndrome NGS Genetic TestWhole Exome SequencingTargeted Mutation AnalysisChromosomal Microarray
ComparisonDIS3L2 Gene Perlman Syndrome NGS Genetic TestWES covers all coding regions of the genome, while this test focuses only on DIS3L2. WES is more comprehensive but costlier and slower.Targeted analysis looks for specific known mutations, whereas NGS sequences the entire gene, detecting novel variants.CMA detects copy number changes but not single nucleotide variants. This NGS test is better for point mutations.

Frequently Asked Questions

What is Perlman syndrome?
Perlman syndrome is a rare genetic disorder characterized by overgrowth, organomegaly, distinctive facial features, and intellectual disability. It is caused by mutations in the DIS3L2 gene.
How is Perlman syndrome inherited?
Perlman syndrome is inherited in an autosomal recessive pattern, meaning both copies of the DIS3L2 gene must be mutated for the condition to manifest.
What is the cost of the DIS3L2 gene NGS test in India?
The cost is INR 20,000 at DNA Labs India, with free home sample collection available across major cities.
What sample is required for this test?
A blood sample (2-3 ml in EDTA) or one drop of blood on an FTA card is required.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be done on children?
Yes, this test is designed for pediatric patients, but it can be performed at any age.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the DIS3L2 gene, confirming the diagnosis of Perlman syndrome.
What if the result is negative?
A negative result means no mutation was found in the DIS3L2 gene. However, clinical suspicion may warrant further testing for other genetic causes.
Is genetic counseling included?
Yes, a genetic counseling session is included to discuss the implications of the test and results.
Are there any risks associated with the test?
The test involves a simple blood draw, which carries minimal risks such as slight bruising or infection at the puncture site.
Can this test be used for prenatal diagnosis?
Yes, if a familial mutation is known, this test can be performed on prenatal samples (e.g., amniotic fluid or CVS) for prenatal diagnosis.
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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