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DNA Labs India

ZNF81 Gene Mental retardation, X-linked type 45 NGS Genetic Test

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ZNF81 Gene Mental retardation, X-linked type 45 NGS Genetic Test

Short Name: ZNF81 MRX45 NGS Test

Also known as: MRX45, Mental retardation, X-linked type 45, ZNF81 gene mutation analysis

ZNF81 Gene Mental retardation, X-linked type 45 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 Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect disease-causing variants in the ZNF81 gene in individuals presenting with features of MRX45, thereby providing a molecular diagnosis and helping family members understand recurrence risk.

Test Code
4284
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session should be completed before the test to record clinical history, draw a pedigree chart, and explain the benefits and limitations of genetic testing.

Method: Venipuncture or dried blood spot on FTA card

Step 2

Laboratory Analysis

An appropriate sample such as blood, FTA card blood spot, or extracted DNA is collected by a trained phlebotomist or as instructed by the laboratory.

Step 3

Report Delivery

The sample is transported to the DNA laboratory for DNA extraction and NGS. No patient restrictions are needed after collection.

Timeline: Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session is recommended to discuss the purpose, benefits, limitations, and possible outcomes of the ZNF81 gene NGS test.
2
During the Test:A small blood sample or FTA card blood spot is collected for DNA extraction and next-generation sequencing.
3
After the Test:The patient may resume normal activities. The laboratory will share the report through the chosen delivery method when ready.

About This Test

Who Should Get This Test

The purpose of this test is to detect disease-causing variants in the ZNF81 gene in individuals presenting with features of MRX45, thereby providing a molecular diagnosis and helping family members understand recurrence risk.

How to Prepare

  • Book the test online for free home sample collection.
  • Use the sample container provided by DNA Labs India.
  • Label the sample clearly with patient name and date of birth.
  • Complete the clinical history, requisition form, and genetic counselling documentation.

Doctor's Notes

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

"For families with a known or suspected X-linked intellectual disability, reproductive planning and genetic counselling are important. Carrier testing in at-risk female relatives can clarify recurrence risks and guide future pregnancies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirement
ContainerEDTA tube / FTA card / DNA vial
Collection MethodVenipuncture or dried blood spot on FTA card

Sample Stability

Whole blood in EDTA: stable for 24-48 hours at 2-8°C; do not freeze.
Extracted DNA: stable at -20°C or lower for long-term storage.
FTA dried blood spot: stable at room temperature during transport and storage.
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood
  • Unlabeled or mislabeled sample
  • Non-EDTA blood sample or contaminated FTA card

Understanding Your Results

The results of this NGS test must be interpreted by a clinical geneticist in the context of the patient's clinical presentation, family history, and pedigree.
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⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, or pediatrician if there is unexplained developmental delay, intellectual disability, seizures, or a family history of X-linked intellectual disability.

Limitations

  • This single-gene NGS test analyzes only the ZNF81 gene and cannot rule out other genetic or non-genetic causes of intellectual disability.
  • Large deletions/duplications, deep intronic variants, and repeat expansions may not be detected by standard NGS.
  • A variant of uncertain significance may require additional family studies and clinical correlation.

Risks & Considerations

  • Mild bruising or pain at the blood collection site
  • Emotional impact of a genetic diagnosis
  • Privacy and insurance considerations

Interfering Factors

  • Poor DNA quality or quantity
  • Sample contamination
  • Recent allogeneic stem cell transplant
  • Maternal cell contamination of fetal samples, if applicable

Compare With Similar Tests

TestZNF81 Gene Mental retardation, X-linked type 45 NGS Genetic Test
ComparisonZNF81 Gene Mental retardation, X-linked type 45 NGS Genetic Test

Frequently Asked Questions

What is ZNF81-related mental retardation, X-linked type 45?
MRX45 is a rare X-linked form of intellectual disability linked to mutations in the ZNF81 gene. It is more commonly seen in males and is associated with moderate to severe intellectual disability, delayed speech, behavioral problems, seizures, and subtle facial differences.
What is the cost of the ZNF81 gene NGS genetic test at DNA Labs India?
The test costs INR 20,000. Online bookings include free home sample collection in many cities across India.
What sample is required for this test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for the test.
Is fasting required before the test?
No fasting is required. However, a genetic counselling session and clinical history are recommended before sample collection.
How long will it take to get the report?
The report is generally available in 3 to 4 weeks after the sample is received at the laboratory.
What conditions does this test screen for?
This test specifically analyzes the ZNF81 gene for variants associated with X-linked mental retardation type 45, also called MRX45.
Who should consider this test?
People with unexplained intellectual disability or developmental delay, especially males, and families with a history of X-linked intellectual disability should consider testing after genetic counselling.
Does this test detect all causes of intellectual disability?
No. It only analyzes the ZNF81 gene. Other genetic and non-genetic causes of intellectual disability will not be evaluated by this single-gene test.
What does a 'no pathogenic variant detected' result mean?
It means no reportable disease-causing variant was found in the ZNF81 gene. It does not completely exclude MRX45 or other causes of intellectual disability.
What is a variant of uncertain significance?
It is a DNA change whose effect on health is not yet known. It does not confirm or exclude the diagnosis and may need additional family testing and clinical correlation.
Can females have this condition?
MRX45 mainly affects males. Female carriers may have little or no signs, but because X-linked conditions can vary, genetic counselling is recommended to discuss inheritance and risks.
Will I receive raw data, FASTQ, and VCF files with the report?
Yes. DNA Labs India provides raw data, FASTQ, and VCF files along with the conclusive clinical report for this NGS genetic test.
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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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 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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