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PUS3 Gene Mental retardation, autosomal recessive type 55 NGS Genetic Test

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PUS3 Gene Mental retardation, autosomal recessive type 55 NGS Genetic Test

Short Name: PUS3 Gene MR Type 55 NGS Test

Also known as: PUS3-related intellectual disability, Autosomal Recessive Mental Retardation Type 55

PUS3 Gene Mental retardation, autosomal recessive type 55 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.

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

The purpose of this test is to identify mutations in the PUS3 gene that cause autosomal recessive mental retardation type 55. It helps in confirming diagnosis, guiding treatment strategies, facilitating genetic counseling, and enabling family planning decisions.

Test Code
1687
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

Provide detailed clinical history of the patient. Undergo a genetic counseling session to draw a pedigree chart of family members affected with similar disorders.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or use of FTA card for one drop blood. Ensure proper labeling and handling.

Step 3

Report Delivery

Store sample at ambient room temperature and transport to lab promptly. Avoid hemolysis or contamination.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Complete pre-test genetic counseling and provide clinical history. No fasting required.
2
During the Test:Blood sample collection; procedure is minimally invasive with low risk.
3
After the Test:Wait for 3-4 weeks for results. Genetic counseling recommended post-test.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the PUS3 gene that cause autosomal recessive mental retardation type 55. It helps in confirming diagnosis, guiding treatment strategies, facilitating genetic counseling, and enabling family planning decisions.

How to Prepare

  • Obtain informed consent
  • Record clinical and family history
  • Perform genetic counseling
  • Collect blood sample in EDTA tube or use FTA card
  • Label samples accurately

Doctor's Notes

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

"This NGS test is essential for diagnosing genetic etiologies of intellectual disability, enabling early intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL for blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PUS3 gene. Interpretation should be done in conjunction with clinical findings and family history.
Normal result: No pathogenic variants detected; clinical correlation may be needed.
Abnormal result: Pathogenic variants identified; confirm with clinical diagnosis and genetic counseling.
Variant of uncertain significance: May require further testing or family studies.
Negative result: Does not exclude other genetic causes of intellectual disability.
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if the test result is abnormal, if symptoms persist despite normal results, or for guidance on management and family planning.

Limitations

  • ⚠May not detect all types of genetic variations (e.g., large deletions/duplications)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Does not rule out other genetic or environmental causes of intellectual disability

Risks & Considerations

  • ●Minor bruising or pain at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Insufficient sample volume

Frequently Asked Questions

What is PUS3 Gene Mental Retardation, Autosomal Recessive Type 55?
It is a rare genetic disorder caused by mutations in the PUS3 gene, leading to intellectual disability and associated symptoms like delayed development and seizures.
Who should get this genetic test?
Individuals with unexplained intellectual disability, delayed speech or motor development, behavioral issues, seizures, or a family history of similar conditions should consider this test.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the PUS3 gene from a blood or DNA sample, detecting mutations with high accuracy.
What does the test cost?
The test costs INR 20000 at DNA Labs India, which includes home sample collection and detailed reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What samples are required?
Blood, extracted DNA, or one drop blood on an FTA card can be used for testing.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What are the symptoms of this disorder?
Symptoms include intellectual disability, delayed speech and motor development, behavioral problems, and seizures.
How is the diagnosis confirmed?
Diagnosis is based on clinical symptoms, family history, and genetic testing to identify PUS3 gene mutations.
What is included in the test report?
The report includes clinical findings, mutation analysis, and raw data files (FASTQ, VCF) for transparency.
Can this test be used for family planning?
Yes, results can inform genetic counseling and family planning decisions for carriers or affected families.
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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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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