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DDX3X Gene Mental retardation, X-linked type 102 NGS Genetic Test

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DDX3X Gene Mental retardation, X-linked type 102 NGS Genetic Test

Short Name: DDX3X NGS Test

Also known as: DDX3X-Related Disorder, X-Linked Intellectual Disability Type 102

DDX3X Gene Mental retardation, X-linked type 102 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)Female🏠 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 mental retardation, X-linked type 102 by detecting mutations in the DDX3X gene, enabling accurate identification, genetic counseling, and management planning for affected females and their families.

Test Code
1694
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

Ensure genetic counseling session is completed to draw a pedigree chart of family members. Provide clinical history of the patient.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Use sterile techniques for blood collection. For FTA card, follow specific procedures for one-drop blood application.

Step 3

Report Delivery

Label samples correctly and store at ambient room temperature. Transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to understand test implications and draw a family pedigree chart. Provide detailed clinical history.
2
During the Test:Blood sample collection via venipuncture or finger prick. Sample processed using NGS technology.
3
After the Test:Results are analyzed and interpreted by geneticists. Report delivered in 3-4 weeks with counseling recommended.

About This Test

Who Should Get This Test

To diagnose mental retardation, X-linked type 102 by detecting mutations in the DDX3X gene, enabling accurate identification, genetic counseling, and management planning for affected females and their families.

How to Prepare

  • Fast for at least 4 hours before blood draw if required
  • Avoid strenuous activity before sample collection
  • Ensure proper identification of the patient
  • Follow instructions for FTA card handling

Doctor's Notes

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

"Genetic testing for DDX3X is crucial for accurate diagnosis and family planning. Early identification can lead to better management and support services for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples stable for 7 days at room temperature
Extracted DNA stable for years at -20°C
FTA card samples stable for extended periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect sample type
  • Contaminated or mislabeled samples

Understanding Your Results

Results are interpreted based on the detection of mutations in the DDX3X gene. Variants are classified according to American College of Medical Genetics and Genomics (ACMG) guidelines.
Positive result: Pathogenic or likely pathogenic variant detected, indicating diagnosis of mental retardation, X-linked type 102.
Negative result: No pathogenic variants detected; clinical correlation recommended.
Variant of uncertain significance: Further testing or family studies may be needed for clarification.
Genetic counseling is essential to discuss implications, recurrence risks, and management options.
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if the test is positive for further management, support services, and family planning. Seek genetic counseling for all results.

Limitations

  • ⚠May not detect all types of genetic variants, such as deep intronic mutations
  • ⚠Requires genetic counseling for interpretation of results
  • ⚠Not suitable for prenatal diagnosis without confirmation
  • ⚠Results may be of uncertain significance requiring further testing

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of test results
  • ●Possible detection of variants of uncertain significance causing anxiety

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Technical errors in sequencing
  • ●Hemolyzed or clotted blood samples

Compare With Similar Tests

TestDDX3X Gene Mental retardation, X-linked type 102 NGS Genetic TestChromosomal Microarray AnalysisWhole Exome SequencingFMR1 Gene Test for Fragile X SyndromeMECP2 Gene Test for Rett Syndrome
ComparisonDDX3X Gene Mental retardation, X-linked type 102 NGS Genetic TestDetects large chromosomal deletions/duplications but not point mutations in DDX3X.Covers all genes but may have higher cost and longer turnaround time.Specific to Fragile X; DDX3X test is for a different genetic cause of intellectual disability.Targets a different gene associated with neurological disorders in females.

Frequently Asked Questions

What is the DDX3X Gene NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the DDX3X gene, which cause mental retardation, X-linked type 102, a rare genetic disorder primarily affecting females.
What are the symptoms of Mental Retardation, X-Linked Type 102?
Symptoms include severe intellectual disability, delayed speech and language development, seizures, abnormal facial features, hyperactivity, aggressive behavior, and autistic-like behaviors.
How is the test performed?
The test uses next-generation sequencing technology to analyze DNA from blood or extracted DNA samples for mutations in the DDX3X gene.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used as samples.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the DDX3X Gene NGS Test in India?
The test costs INR 20,000, which includes sample collection and genetic counseling at DNA Labs India.
Is home sample collection available for the DDX3X test?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
Who should undergo this test?
Females with intellectual disability, seizures, or related symptoms, and families with a history of X-linked mental retardation should consider this test.
What is the accuracy of the NGS Genetic Test?
The test is highly accurate for detecting mutations in the DDX3X gene using advanced NGS technology with greater than 98% coverage at 20x depth, but genetic counseling is essential for interpretation.
Are there any risks associated with the DDX3X test?
Risks are minimal and mainly related to blood draw, such as bruising or discomfort. Psychological impact of receiving results is also possible, so genetic counseling is recommended.
How are the DDX3X test results interpreted?
Results are interpreted by geneticists based on ACMG variant classification guidelines. A positive result indicates a pathogenic variant causing the condition, while a negative result may require clinical correlation.
What are the next steps after a positive DDX3X diagnosis?
Consult a geneticist or neurologist for management, developmental support services, and family planning. Genetic counseling is recommended to understand recurrence risks and connect with support communities.
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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