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RPS6KA3 Gene Mental retardation, X-linked type 19 NGS Genetic Test

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RPS6KA3 Gene Mental retardation, X-linked type 19 NGS Genetic Test

Short Name: RPS6KA3 X-linked MR19 NGS Test

Also known as: RPS6KA3 gene mutation analysis, X-linked intellectual disability type 19 genetic test, RPS6KA3 sequencing test

RPS6KA3 Gene Mental retardation, X-linked type 19 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 will be available in 3 to 4 weeks from the date the sample is received by the laboratory.. 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 primary purpose is to identify pathogenic variants in the RPS6KA3 gene that confirm or exclude a diagnosis of X-linked mental retardation type 19, and to provide carrier status information for at-risk family members.

Test Code
4270
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be available in 3 to 4 weeks from the date the sample is received by the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A prior genetic counselling session, clinical history, and a pedigree chart of family members affected with RPS6KA3-related intellectual disability are required.

Method: Blood draw / FTA card / DNA extraction

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist at your home, or you may visit a DNA Labs India collection centre.

Step 3

Report Delivery

Sample should be transported to the laboratory under appropriate conditions. Report will be delivered within 3 to 4 weeks.

Timeline: Reports will be available in 3 to 4 weeks from the date the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Ensure you share the clinical history and pedigree chart with the genetic counsellor.
2
During the Test:The sample collection is a simple blood draw or FTA card spot sample. There is no need for sedation.
3
After the Test:You can resume daily activities immediately. The laboratory will process the sample and provide the report in 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose is to identify pathogenic variants in the RPS6KA3 gene that confirm or exclude a diagnosis of X-linked mental retardation type 19, and to provide carrier status information for at-risk family members.

How to Prepare

  • No fasting is required.
  • Prior genetic counselling session and clinical history/pedigree are needed.
  • For home collection, keep the FTA card/EDTA tube provided by the lab ready.
  • Label the sample with the patient's name and date of birth.

Doctor's Notes

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

"In a child with unexplained intellectual disability, a targeted RPS6KA3 gene test is appropriate when the family history suggests X-linked inheritance. The test result helps the clinician provide recurrence-risk information and plan long-term developmental support."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube / FTA card
Collection MethodBlood draw / FTA card / DNA extraction

Sample Stability

Blood sample: Transport at ambient temperature or refrigerated as per lab instructions.
FTA card: Stable at ambient temperature for transport and storage.
Sample Rejection Criteria:
  • Incorrect label on sample
  • Clotted or hemolyzed blood
  • Insufficient sample quantity
  • Sample received without clinical details

Understanding Your Results

Interpretation of the RPS6KA3 gene NGS test should be performed by a clinical geneticist. Results are reported in the context of clinical features and family history.
Negative: No pathogenic/likely pathogenic variants detected in RPS6KA3.
Positive: A pathogenic/likely pathogenic variant detected; diagnosis of X-linked mental retardation type 19 is confirmed.
VUS: A variant of uncertain significance identified; additional family testing may help classification.
Carrier: A heterozygous variant in a female indicates carrier status with recurrence risk implications.
⚠️ When to Consult a Doctor:

If your child or family member has unexplained developmental delay, intellectual disability, or features suggestive of an X-linked disorder, consult a clinical geneticist or neurologist for evaluation.

Limitations

  • ⚠NGS may not detect large deletions/duplications, repetitive regions, or deep intronic mutations.
  • ⚠Variant re-classification over time may require re-analysis.
  • ⚠A negative result does not exclude all genetic causes of intellectual disability.

Risks & Considerations

  • ●Minor pain or bruising at the blood collection site.
  • ●Dizziness or lightheadedness during collection.
  • ●Rare local infection at venipuncture site.

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Incomplete clinical information
  • ●Sample mix-up during labelling

Compare With Similar Tests

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Frequently Asked Questions

What is RPS6KA3-related X-linked mental retardation type 19?
It is an X-linked genetic form of intellectual disability caused by mutations in the RPS6KA3 gene. It mostly affects males and can be confirmed by NGS genetic testing.
Is the test recommended only for males?
It is primarily used for symptomatic males because the condition follows an X-linked inheritance pattern. Females with a suggestive family history or mild features can also be tested for carrier status after genetic counselling.
What sample can be used for this test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used. DNA Labs India provides free home sample collection for online bookings.
Does this test require fasting?
No. Fasting is not required for this genetic test.
How much does the RPS6KA3 NGS test cost?
The total cost is Rs 20,000 at DNA Labs India, which includes the NGS analysis, clinical report and raw data files.
How long will the reports take?
Reports are generally available in 3 to 4 weeks.
What are the common symptoms of X-linked mental retardation type 19?
Common symptoms include delayed speech, learning difficulties, behaviour problems, intellectual disability, reduced muscle tone, seizures, abnormal gait, and delayed motor development.
Why is NGS preferred for this condition?
NGS is highly accurate in detecting small mutations in the gene, including point mutations and small insertions/deletions that other methods may miss.
Can a negative result rule out RPS6KA3-related intellectual disability?
A negative result from a well-covered NGS test significantly reduces the likelihood, but if clinical suspicion remains, further testing such as deletion/duplication analysis may be considered.
What are raw data files and why are they important?
FASTQ and VCF files are the raw sequencing outputs. DNA Labs India shares them with the clinical report for transparency and future reanalysis, if needed.
Do I need a genetic counselling session before the test?
According to the test prerequisites, a genetic counselling session is needed to draw a pedigree chart and document the clinical history of affected family members.
Is the test available across India?
Yes, DNA Labs India offers this test with free home sample collection across multiple cities in India for online bookings.
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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