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RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic Test

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RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic Test

Short Name: RPS6KA3 Gene Coffin-Lowry Syndrome NGS Test

Also known as: Coffin-Lowry Syndrome Genetic Test, RPS6KA3 Mutation Analysis, CLS Genetic Test

RPS6KA3 Gene Coffin-Lowry 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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

The purpose of the RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic Test is to confirm the diagnosis of Coffin-Lowry syndrome by identifying pathogenic mutations in the RPS6KA3 gene. This test aids in clinical management, family planning, and genetic counseling.

Test Code
1568
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counseling session is recommended to discuss the test, family history, and implications. Provide detailed clinical history of the patient, including symptoms and developmental milestones.

Method: Venipuncture or FTA Card Application

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist using sterile techniques. For FTA card, a drop of blood is applied and dried.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Store samples as instructed and transport to the lab promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor and provide a comprehensive medical and family history. Ensure informed consent is obtained.
2
During the Test:Sample collection involves a simple blood draw or FTA card application, typically taking 10-15 minutes.
3
After the Test:Wait for the report, which will be delivered in 3-4 weeks. Schedule a follow-up with the physician to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of the RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic Test is to confirm the diagnosis of Coffin-Lowry syndrome by identifying pathogenic mutations in the RPS6KA3 gene. This test aids in clinical management, family planning, and genetic counseling.

How to Prepare

  • No fasting required for this test
  • Ensure proper labeling of samples with patient details
  • Use aseptic techniques to avoid contamination
  • For FTA card, allow blood to dry completely before packaging

Doctor's Notes

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

"Genetic testing for RPS6KA3 gene is essential for confirming Coffin-Lowry syndrome, guiding clinical management, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card Application

Sample Stability

Blood samples: stable for 24 hours at room temperature (18-25°C)
Extracted DNA: stable for several days at 2-8°C or longer at -20°C
FTA card samples: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume for analysis
  • Samples without proper labeling or documentation
  • Contaminated or degraded samples

Understanding Your Results

Test results indicate the presence or absence of mutations in the RPS6KA3 gene. A positive result confirms a diagnosis of Coffin-Lowry syndrome, while a negative result suggests no pathogenic variants were detected, though clinical correlation is advised.
Positive: Pathogenic variant detected – confirms Coffin-Lowry syndrome diagnosis
Negative: No pathogenic variant detected – reduces likelihood but does not entirely rule out syndrome
Variant of Uncertain Significance (VUS) – requires clinical evaluation and family studies
⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if symptoms of Coffin-Lowry syndrome are present, for family planning if there is a family history, or to interpret test results and discuss management options.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
  • ⚠Results require interpretation by a qualified geneticist or clinician
  • ⚠Variant of uncertain significance (VUS) may be identified, requiring further investigation

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of test results; genetic counseling recommended

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●DNA degradation due to improper storage
  • ●Presence of inhibitors in the sample affecting NGS analysis

Compare With Similar Tests

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Frequently Asked Questions

What is the RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the RPS6KA3 gene, which causes Coffin-Lowry syndrome, a rare genetic disorder affecting males with intellectual disability and physical abnormalities.
Who should consider this genetic test?
Individuals with symptoms such as intellectual disability, delayed speech, facial or skeletal abnormalities, hyperactive behavior, or those with a family history of Coffin-Lowry syndrome.
How is the test performed?
A blood sample or DNA on an FTA card is collected and analyzed using NGS technology to sequence the RPS6KA3 gene for mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the test results mean?
A positive result confirms a diagnosis of Coffin-Lowry syndrome. A negative result indicates no pathogenic mutations were detected, but clinical correlation is advised. Variants of uncertain significance may require further evaluation.
Is the test covered by insurance?
Coverage varies by insurance plan. It is recommended to check with your provider. DNA Labs India offers transparent pricing and can assist with insurance queries.
What are the risks of the test?
The test involves minimal risks from blood draw, such as minor bruising. Genetic testing may have emotional implications; counseling is provided.
Can this test be done for females?
While Coffin-Lowry syndrome primarily affects males, females can be carriers. Testing may be recommended for carrier status or in some symptomatic cases, based on clinical judgment.
What is included in the test report?
The report includes analysis results, interpretation, and access to raw data, FASTQ, and VCF files for transparency, along with genetic counseling support.
How do I book the test?
Book online through DNA Labs India's website for free home sample collection or visit a walk-in center. Contact via phone or WhatsApp for assistance.
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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