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DNA Labs India

USP9X Gene Mental retardation, X-linked type 99 NGS Genetic Test

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USP9X Gene Mental retardation, X-linked type 99 NGS Genetic Test

Short Name: USP9X Gene Test

Also known as: USP9X-Related Disorder, X-linked Intellectual Disability Type 99

USP9X Gene Mental retardation, X-linked type 99 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 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

To diagnose USP9X gene-related X-linked intellectual disability type 99 through detection of pathogenic variants, aiding in clinical management, genetic counseling, and family planning.

Test Code
1704
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
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood spot on FTA card by trained phlebotomist.

Step 3

Report Delivery

Store sample at ambient room temperature and transport to lab promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to understand test implications and draw family pedigree.
2
During the Test:Sample collection and submission to lab for NGS analysis.
3
After the Test:Review results with geneticist; plan follow-up based on findings.

About This Test

Who Should Get This Test

To diagnose USP9X gene-related X-linked intellectual disability type 99 through detection of pathogenic variants, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment for blood collection
  • Label sample correctly with patient details

Doctor's Notes

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

"This test is essential for diagnosing X-linked intellectual disability, enabling targeted management 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
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood: stable at room temperature for 24 hours
FTA Card: stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or contamination

Understanding Your Results

Results are interpreted based on the detection of variants in the USP9X gene, with classifications indicating pathogenicity.
Pathogenic variants: Confirm diagnosis of USP9X-related disorder
Likely Pathogenic variants: Strong evidence for association, recommend clinical correlation
Variants of Uncertain Significance (VUS): Require further family testing and clinical evaluation
Benign variants: No disease association
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist immediately after receiving results for management and genetic counseling.

Limitations

  • ⚠May not detect all types of genetic variations (e.g., large deletions)
  • ⚠Variant interpretation may require additional family studies
  • ⚠Cannot rule out other genetic causes of intellectual disability

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Potential emotional impact from results; genetic counseling recommended

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestUSP9X Gene Mental retardation, X-linked type 99 NGS Genetic TestFMR1 Gene TestMECP2 Gene Test
ComparisonUSP9X Gene Mental retardation, X-linked type 99 NGS Genetic Test

Frequently Asked Questions

What is USP9X Gene Mental Retardation, X-linked Type 99?
It is a genetic disorder caused by mutations in the USP9X gene, leading to X-linked intellectual disability with symptoms like developmental delay and seizures.
What are the symptoms of this disorder?
Symptoms include intellectual disability, developmental delay, speech difficulties, behavioral problems, seizures, microcephaly, and facial dysmorphisms.
How is the test performed?
The test uses NGS technology to analyze the USP9X gene from a blood or DNA sample for mutations.
What is the cost of the test?
The cost is INR 20,000 at DNA Labs India, with home collection available.
Is home sample collection available?
Yes, free home collection is offered across many cities in India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of intellectual disability, developmental delay, or family history of X-linked disorders.
What is the accuracy of the test?
The test has high accuracy for detecting pathogenic variants in the USP9X gene using NGS technology.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw; genetic counseling is recommended for emotional support.
What should I do after receiving the test results?
Consult a neurologist or geneticist for interpretation, management planning, and genetic counseling.
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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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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