ZNF674 Gene Mental retardation, X-linked type 92 NGS Genetic Test
Short Name: ZNF674 Gene MRX92 NGS Test
Also known as: MRX92, X-linked Intellectual Disability Type 92, ZNF674-Related Mental Retardation, ZNF674 Gene Mutation Test, X-linked Mental Retardation 92
ZNF674 Gene Mental retardation, X-linked type 92 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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results can be accessed through the Online Portal, Email, or WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic or likely pathogenic mutations in the ZNF674 gene that cause X-linked intellectual disability type 92 (MRX92). This test aids in confirming a clinical diagnosis, guiding management decisions, enabling carrier detection in female family members, informing recurrence risk assessment, and facilitating genetic counseling for affected families. It is also useful for prenatal or preconception planning in families with known ZNF674 mutations.
- Test Code
- 1713
- ICD Code
- F79.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results can be accessed through the Online Portal, Email, or WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A pre-test genetic counseling session is recommended to document the clinical history of the patient, construct a pedigree chart of family members affected with ZNF674-related intellectual disability, and discuss the implications of testing. No fasting is required. Inform the laboratory of any recent blood transfusions or medications.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3 to 5 mL of peripheral venous blood using a sterile needle and syringe into an EDTA (lavender-top) vacutainer tube. Alternatively, one drop of blood on an FTA card or an extracted DNA sample can be submitted. The site will be cleaned with an antiseptic swab and pressure applied after collection.
Report Delivery
Label the sample properly with patient details and transport at ambient room temperature to the laboratory within the specified stability window. Avoid freezing whole blood samples. Results will be available within 3 to 4 weeks via the Online Portal, Email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results can be accessed through the Online Portal, Email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic or likely pathogenic mutations in the ZNF674 gene that cause X-linked intellectual disability type 92 (MRX92). This test aids in confirming a clinical diagnosis, guiding management decisions, enabling carrier detection in female family members, informing recurrence risk assessment, and facilitating genetic counseling for affected families. It is also useful for prenatal or preconception planning in families with known ZNF674 mutations.
How to Prepare
- Collect 3 to 5 mL of peripheral venous blood in an EDTA (Lavender Top) vacutainer tube.
- Alternatively, submit one drop of blood on an FTA card or extracted DNA (minimum 1 microgram).
- Ensure the tube is gently inverted 8 to 10 times after collection to mix with antiseptic.
- Label the sample with patient name, date of birth, date of collection, and referring physician details.
- Transport the sample at ambient room temperature. Do not freeze whole blood.
- Submit the sample to the laboratory within 48 to 72 hours of collection for optimal results.
- Ensure the clinical history and consent form are enclosed with the sample.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"X-linked intellectual disability type 92 caused by ZNF674 gene mutations is a rare condition that predominantly affects males. Early genetic testing through NGS technology allows for precise identification of causative variants, which is critical for initiating early intervention programs, educational accommodations, and accurate genetic counseling for families. I recommend this test for any male child presenting with unexplained developmental delay, intellectual disability, or a family history suggestive of X-linked inheritance. Genetic counseling both before and after testing is essential to help families understand the results, recurrence risks, and available support resources."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in a heparin tube instead of EDTA tube
- Hemolyzed, clotted, or insufficient volume samples
- Samples without proper labeling or patient identification
- Samples received beyond the stability window without prior notification
- Missing clinical history or consent documentation
Understanding Your Results
Pathogenic Variant Detected
Confirms the diagnosis of X-linked intellectual disability type 92 (MRX92). The identified mutation in ZNF674 is known to cause disease. Genetic counseling, early intervention, and family screening are recommended.
Likely Pathogenic Variant Detected
Strong evidence suggests the variant causes MRX92. Clinical correlation is advised. Genetic counseling and possible family member testing are recommended.
Variant of Uncertain Significance (VUS)
A variant was identified but there is insufficient evidence to classify it as pathogenic or benign. Clinical correlation, family segregation studies, and periodic re-evaluation as new data becomes available are recommended.
Likely Benign Variant Detected
The variant is unlikely to be the cause of the patient's symptoms. Clinical evaluation for alternative diagnoses may be considered.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the ZNF674 gene. This does not completely exclude a genetic etiology for intellectual disability. Additional genetic testing or clinical evaluation may be warranted.
Consult a geneticist, neurologist, or genetic counselor if you or your child exhibits signs of intellectual disability, delayed speech and language development, learning difficulties, poor motor coordination, or behavioral problems such as hyperactivity and aggression, especially if there is a family history of X-linked mental retardation. A healthcare professional can evaluate the clinical presentation, recommend appropriate genetic testing, and guide management and intervention strategies based on the test results.
Limitations
- ⚠This test analyzes only the ZNF674 gene and does not screen for mutations in other genes associated with intellectual disability
- ⚠Deep intronic variants and large structural rearrangements may not be fully detected by standard NGS
- ⚠A negative result does not completely exclude a genetic cause of intellectual disability
- ⚠Variants of uncertain significance (VUS) require clinical correlation and may need further investigation
- ⚠Mosaicism at low levels may not be reliably detected
- ⚠Results should always be interpreted in conjunction with clinical findings by a qualified geneticist or genetic counselor
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the blood draw site
- ●Psychological or emotional impact of receiving genetic test results
- ●Potential identification of variants of uncertain significance (VUS) that may cause anxiety
- ●Implications for family members who may also carry the variant
Interfering Factors
- ●Degraded or low-quality DNA samples may affect sequencing accuracy
- ●Blood samples stored beyond recommended stability period
- ●Contamination during sample collection or transport
- ●Presence of heparin in the sample tube (EDTA tubes recommended)
- ●Recent blood transfusion may affect results in some cases
Compare With Similar Tests
| Test | ZNF674 Gene Mental retardation, X-linked type 92 NGS Genetic Test | FMR1 Gene Fragile X Syndrome NGS Genetic Test | MECP2 Gene Rett Syndrome NGS Genetic Test | ARX Gene X-Linked Intellectual Disability NGS Genetic Test | Intellectual Disability Multi-Gene NGS Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|---|
| Comparison | ZNF674 Gene Mental retardation, X-linked type 92 NGS Genetic Test |
Frequently Asked Questions
What is the ZNF674 Gene Mental Retardation, X-Linked Type 92 NGS Genetic Test?
Who should get the ZNF674 Gene NGS Genetic Test done?
What sample is required for this genetic test?
What is the cost of the ZNF674 Gene NGS Genetic Test in India?
How long does it take to get the test results?
Is home sample collection available for this test?
What does a positive test result mean?
Is genetic counseling recommended before and after this test?
Can females be affected by X-linked type 92 mental retardation?
Does DNA Labs India share raw genetic data files with patients?
Is this test covered under government health schemes like PMJAY or CGHS?
What should I do if the test result shows a Variant of Uncertain Significance (VUS)?
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