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DNA Labs India

IL1RAPL1 Gene Mental retardation, X-linked type 21 NGS Genetic Test

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IL1RAPL1 Gene Mental retardation, X-linked type 21 NGS Genetic Test

Short Name: IL1RAPL1 NGS Genetic Test

Also known as: IL1RAPL1 gene sequencing, X-linked intellectual disability type 21 genetic test, MRX21 NGS test, IL1RAPL1 gene mutation analysis

IL1RAPL1 Gene Mental retardation, X-linked type 21 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 Reports are available in 3 to 4 weeks after the sample is received by the laboratory.. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)All Ages🏠 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

To confirm or rule out pathogenic variants in the IL1RAPL1 gene in individuals showing clinical signs of X-linked mental retardation type 21 and to provide molecular information for genetic counselling and family risk assessment.

Test Code
4275
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are available in 3 to 4 weeks after the sample is received by the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended to draw a pedigree chart of family members affected with IL1RAPL1-related mental retardation before proceeding with the test.

Method: Home sample collection by trained phlebotomist or clinic visit

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small blood sample from the vein, or a dried blood spot may be collected on an FTA card. For extracted DNA samples, the referring laboratory will send the purified DNA according to the instructions.

Step 3

Report Delivery

The sample will be sent to the DNA Labs India laboratory for analysis. No dietary or activity restrictions are required after sample collection.

Timeline: Reports are available in 3 to 4 weeks after the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Feel free to discuss the purpose, limitations, and expected outcomes with your referring doctor and genetic counsellor.
2
During the Test:The sample is collected by a trained professional. Blood collection takes only a few minutes. For FTA card collection, a small finger-prick or heel-prick blood sample may be used as per laboratory guidance.
3
After the Test:Once the sample reaches the laboratory, NGS sequencing and analysis begin. The report will be delivered via your preferred channel. Please keep your doctor informed and do not make medical decisions solely based on the report.

About This Test

Who Should Get This Test

To confirm or rule out pathogenic variants in the IL1RAPL1 gene in individuals showing clinical signs of X-linked mental retardation type 21 and to provide molecular information for genetic counselling and family risk assessment.

How to Prepare

  • Do not forget to carry the signed consent form and clinical history/referral letter.
  • If blood is collected at home, the phlebotomist will apply the blood to the FTA card or transfer it into the EDTA tube.
  • Label the sample with the patient's full name, date of birth, and collection date.
  • Ensure the FTA card is air-dried before placing it in the provided transport pouch.
  • For extracted DNA, include the sample ID and DNA concentration document.

Doctor's Notes

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

"Genetic testing for X-linked intellectual disability is helpful not only for confirming diagnosis in the affected individual but also for identifying at-risk female carriers in the family. Obstetricians and gynaecologists may recommend carrier testing and reproductive counselling when a pathogenic IL1RAPL1 variant is identified."

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 tube / FTA card / sterile DNA vial
Collection MethodHome sample collection by trained phlebotomist or clinic visit

Sample Stability

FTA card (dried blood spot)Stable for transport as per laboratory guidelines
Extracted DNAShort-term storage; avoid repeated freeze-thaw
Whole blood in EDTATransport promptly to the laboratory
Sample Rejection Criteria:
  • Sample without proper patient identification
  • Insufficient quantity of blood or DNA
  • Hemolyzed or frozen whole blood sample
  • Unlabeled or mislabeled sample
  • Missing clinical details, consent form, or referral

Understanding Your Results

The test report indicates whether a clinically significant mutation was detected in the IL1RAPL1 gene. Results must be reviewed by a clinical geneticist or neurologist in the context of the patient's symptoms and family history.
📊

Negative

No pathogenic or likely pathogenic variant was detected in the IL1RAPL1 gene. This does not exclude all possible genetic causes of intellectual disability.

📊

Positive

A pathogenic or likely pathogenic variant was identified in the IL1RAPL1 gene. This confirms the genetic diagnosis and allows family carrier testing and counselling.

📊

Variant of Uncertain Significance (VUS)

A DNA change was identified but its association with disease is not yet clear. Additional family testing or functional studies may be needed.

⚠️ When to Consult a Doctor:

Consult your referring physician or a clinical geneticist for genetic and reproductive counselling, especially if a pathogenic variant is identified or if there is a family history of X-linked intellectual disability.

Limitations

  • ⚠NGS-based testing may not detect all types of mutations, such as large structural rearrangements or copy number changes involving this gene.
  • ⚠A negative result does not exclude other genetic or non-genetic causes of intellectual disability.
  • ⚠Variants of uncertain significance may require further family studies.
  • ⚠This test should not be used as a standalone screening test for all causes of mental retardation.
  • ⚠Results must be interpreted in the context of family history, clinical examination, and genetic counselling.

Risks & Considerations

  • ●Minimal risk of mild bruising or discomfort at the blood collection site
  • ●Possibility of an inconclusive result or variant of uncertain significance
  • ●Psychological impact of carrier or diagnostic information, particularly in inherited disorders

Interfering Factors

  • ●Poor quality or insufficient DNA/RNA
  • ●Sample contamination during collection or processing
  • ●Mosaicism leading to a low-level variant
  • ●Limitations in bioinformatic analysis of certain repetitive or GC-rich regions
  • ●Variant classification may change as new evidence emerges

Frequently Asked Questions

What is the IL1RAPL1 gene NGS genetic test?
This test uses Next Generation Sequencing to analyse the IL1RAPL1 gene and detect mutations associated with X-linked mental retardation type 21.
What is the price of the test?
The test costs INR 20,000 at DNA Labs India. Free home sample collection is available across several cities in India.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for this test.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
Why is NGS used for this test?
NGS can read the DNA sequence of the IL1RAPL1 gene in a single workflow and detect small changes or mutations that may be responsible for the patient's clinical features.
How long will the report take?
Reports are usually available in 3 to 4 weeks from the date the sample is received by the laboratory.
Will insurance cover this test?
Coverage depends on your insurance provider and policy. DNA Labs India does not directly bill insurance companies. You are advised to check with your insurer before booking.
What do positive and negative results mean?
A positive result means a pathogenic variant was found in the IL1RAPL1 gene, confirming the genetic cause. A negative result means no such variant was detected, but it does not exclude all other causes of intellectual disability.
Who should get this test?
Patients with unexplained intellectual disability, global developmental delay, a family history of X-linked intellectual disability, or clinical features suggestive of IL1RAPL1-associated disorder may be considered for this test.
Will I receive raw data files?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the conclusive clinical report for transparency.
Should this test be done only in males?
X-linked mental retardation type 21 predominantly affects males, but females can be carriers and may occasionally show milder features. Testing decisions should always be made by a doctor or genetic counsellor.
Why is genetic counselling important?
Genetic counselling helps families understand the inheritance pattern, recurrence risk, and implications for other relatives, and supports informed decisions before and after testing.
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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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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