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PRPS1 Gene Arts Syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PRPS1 Gene Arts Syndrome NGS Genetic Test

Short Name: PRPS1 Gene Arts Syndrome Test

Also known as: Arts Syndrome

PRPS1 Gene Arts Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3-4 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

To confirm the diagnosis of PRPS1 Gene Arts Syndrome by detecting mutations in the PRPS1 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
1516
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counseling session and clinical history assessment are recommended prior to sample collection.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample as per instructions.

Step 3

Report Delivery

Sample is processed and analyzed in the laboratory; results are delivered in 3-4 weeks.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide detailed clinical history.
2
During the Test:Sample collection as per laboratory instructions.
3
After the Test:Await results and follow up with healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To confirm the diagnosis of PRPS1 Gene Arts Syndrome by detecting mutations in the PRPS1 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use EDTA tube for blood collection
  • Avoid hemolysis during sample draw
  • Label sample correctly with patient details

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample Volume3-5 ml blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample: Stable for 7 days at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Unlabeled or improperly labeled sample

Understanding Your Results

Results indicate whether pathogenic mutations in the PRPS1 gene are detected, which are associated with Arts Syndrome.
Positive result: Pathogenic mutation detected, consistent with PRPS1 Gene Arts Syndrome.
Negative result: No pathogenic variants found; clinical correlation is recommended.
Variant of uncertain significance (VUS): Further genetic counseling or family studies may be advised.
⚠️ When to Consult a Doctor:

If symptoms such as developmental delay, seizures, or muscle weakness are present, or if there is a family history of genetic disorders, consult a geneticist or neurologist for evaluation and management.

Limitations

  • ⚠May not detect all types of genetic mutations
  • ⚠Variants of uncertain significance (VUS) may be identified
  • ⚠Requires genetic counseling for interpretation
  • ⚠Further testing may be needed for comprehensive evaluation

Risks & Considerations

  • ●Minor bruising at the puncture site
  • ●Slight pain during blood draw
  • ●Very low risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Hemolysis in blood sample
  • ●Improper storage conditions

Frequently Asked Questions

What is PRPS1 Gene Arts Syndrome?
It is a rare genetic disorder affecting the nervous system, caused by mutations in the PRPS1 gene, leading to symptoms like developmental delay and seizures.
What are the common symptoms of PRPS1 Gene Arts Syndrome?
Symptoms include developmental delay, intellectual disability, speech difficulties, behavioral problems, seizures, muscle weakness, and abnormal movements.
How is PRPS1 Gene Arts Syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS Genetic Test offered by DNA Labs India.
What is the cost of the PRPS1 Gene Arts Syndrome NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, inclusive of consultation and sample collection fees.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
How long does it take to receive test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
What does a positive test result indicate?
A positive result means pathogenic mutations in the PRPS1 gene are detected, indicating Arts Syndrome.
Can this test detect all mutations in the PRPS1 gene?
The test uses NGS technology for comprehensive analysis, but some rare mutations may not be detected.
Is genetic counseling necessary before and after testing?
Yes, genetic counseling is recommended to understand the implications and family risk.
What is the PRPS1 gene function?
The PRPS1 gene encodes an enzyme involved in nucleotide production, essential for DNA and RNA synthesis.
Are there any risks associated with the genetic test?
Risks are minimal, limited to minor bruising or pain from blood draw, with very low infection risk.
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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For Hospitals & Clinics

Reference Laboratory Services

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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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