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MED23 Gene Mental retardation, autosomal recessive type 18 NGS Genetic Test

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MED23 Gene Mental retardation, autosomal recessive type 18 NGS Genetic Test

Short Name: MED23 Gene MRT18 NGS Test

Also known as: MRT18, MED23-associated intellectual disability, Autosomal recessive intellectual developmental disorder-18, MED23-related neurodevelopmental disorder

MED23 Gene Mental retardation, autosomal recessive type 18 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 The report is delivered 3 to 4 weeks after sample receipt. The final report includes the MED23 gene variant findings, clinical interpretation, and access to raw data files where applicable.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups🏠 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 detect pathogenic variants in the MED23 gene to confirm or exclude a diagnosis of autosomal recessive mental retardation type 18 (MRT18) in an individual with intellectual disability, global developmental delay, or related neurodevelopmental features.

Test Code
4266
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The report is delivered 3 to 4 weeks after sample receipt. The final report includes the MED23 gene variant findings, clinical interpretation, and access to raw data files where applicable.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required before the test. A genetic counselling session is recommended before sample collection to draw a pedigree chart of family members affected with MED23 gene mental retardation, autosomal recessive type 18, and to discuss the implications of genetic testing. Patients or families should bring any previous medical records, neurological evaluation notes, imaging, or metabolic testing reports.

Method: Venipuncture / FTA card blood spot / Extracted DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist or healthcare professional will collect a small blood sample into an EDTA tube, or a single drop of blood will be placed on an FTA card. If extracted DNA is being submitted, it will be checked for quantity and quality before processing.

Step 3

Report Delivery

The sample is properly labelled and transported to the DNA Labs India laboratory under appropriate conditions. Patients can resume normal diet, activities, and medications immediately after sample collection. The report will be shared within 3 to 4 weeks of sample receipt.

Timeline: The report is delivered 3 to 4 weeks after sample receipt. The final report includes the MED23 gene variant findings, clinical interpretation, and access to raw data files where applicable.

Patient Instructions

1
Before the Test:No special preparation or fasting is required before the MED23 NGS genetic test. A genetic counselling session is recommended to draw a pedigree chart of family members affected with the condition and to discuss the purpose, benefits, limitations, and possible outcomes of genetic testing.
2
During the Test:During the test, a blood sample is collected in an EDTA tube or one drop of blood is placed on an FTA card. If extracted DNA is being submitted, it is checked for quality. The procedure is quick and generally involves minimal discomfort.
3
After the Test:After the test, the patient can resume all normal activities. The sample is processed in the laboratory using next-generation sequencing. The final clinical report, along with Raw Data, FASTQ, and VCF files, will be shared after 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the MED23 gene to confirm or exclude a diagnosis of autosomal recessive mental retardation type 18 (MRT18) in an individual with intellectual disability, global developmental delay, or related neurodevelopmental features.

How to Prepare

  • For whole blood collection, use an EDTA vacutainer and mix gently by inverting the tube 8 to 10 times.
  • For FTA card collection, apply one drop of blood to the marked circles and allow the card to air-dry completely before packaging.
  • If submitting extracted DNA, ensure that the DNA sample is labelled correctly and accompanied by the request form.
  • All samples must be clearly labelled with the patient's full name, date of birth, and unique reference number.

Doctor's Notes

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

"When MED23-related intellectual disability is suspected, a comprehensive clinical evaluation, dysmorphology assessment, three-generation family history, and pre-test genetic counselling are essential. Genetic test results should always be interpreted in the context of the full clinical picture and validated with appropriate molecular methods."

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 protocol
ContainerEDTA vacutainer, DNA elution tube, or FTA card
Collection MethodVenipuncture / FTA card blood spot / Extracted DNA submission

Sample Stability

FTA card blood spots: stable at room temperature when properly dried and stored.
EDTA whole blood: should be transported to the laboratory according to the kit instructions; avoid prolonged storage.
Extracted DNA: recommended storage at -20 degree Celsius until shipping, if required.
Sample Rejection Criteria:
  • Clotted, haemolysed, or visibly degraded blood sample
  • Insufficient sample quantity for DNA extraction
  • Improperly labelled or mismatched patient details
  • Sample received in a leaking container or non-approved collection tube
  • FTA card received wet, contaminated, or damaged

Understanding Your Results

This test is interpreted using a standard five-tier variant classification: pathogenic, likely pathogenic, variant of uncertain significance, likely benign, and benign. Detected variants are evaluated for their potential impact on MED23 protein function and correlation with the reported clinical features.
Negative (no pathogenic/likely pathogenic variant detected): MED23-associated MRT18 is unlikely; other genetic causes of intellectual disability should be considered if clinical suspicion remains high.
Heterozygous pathogenic/likely pathogenic variant in one allele: carrier status is possible; clinical relevance depends on whether a second pathogenic variant is present elsewhere, such as a deletion not detected by targeted sequencing.
Homozygous or compound heterozygous pathogenic/likely pathogenic variants: molecularly confirms MED23-related autosomal recessive intellectual disability type 18 (MRT18).
Variant of uncertain significance (VUS): further family testing, segregation analysis, and functional studies may be recommended to clarify its clinical significance.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist, paediatric neurologist, or genetic counsellor if the test result is positive, negative but clinically suspicious, or inconclusive. A specialist can help with recurrence risk assessment, reproductive planning, carrier testing for relatives, and coordination of multispecialty care.

Limitations

  • ⚠This NGS test is designed for sequence analysis of the coding regions and splice junctions of the MED23 gene.
  • ⚠Large structural variants, repeat expansions, or deep intronic variants may not be detected by this assay.
  • ⚠A negative result does not exclude all genetic causes of intellectual disability.
  • ⚠Variants of uncertain significance may require family co-segregation studies and further functional evaluation.
  • ⚠Interpretation is based on current medical literature, population databases, and ACMG guidelines.

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Rare local bleeding or infection after venipuncture
  • ●No direct physical risk from FTA card blood collection
  • ●Possible psychological impact of genetic results; genetic counselling is recommended

Interfering Factors

  • ●Poor DNA quality or insufficient quantity
  • ●Sample contamination with another individual's DNA
  • ●Mutations in deep intronic or regulatory regions not covered by targeted NGS
  • ●Partial gene deletions or duplications that may require complementary testing such as MLPA
  • ●Low-level somatic mosaicism that may not be reliably detected

Compare With Similar Tests

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ComparisonMED23 Gene Mental retardation, autosomal recessive type 18 NGS Genetic Test

Frequently Asked Questions

What is the MED23 gene mental retardation autosomal recessive type 18 NGS genetic test?
This test uses next-generation sequencing to analyse the MED23 gene for mutations associated with autosomal recessive mental retardation type 18 (MRT18). It is a molecular genetic test used to confirm the clinical diagnosis in individuals with intellectual disability and developmental delay.
What is the cost of the MED23 gene MRT18 NGS test at DNA Labs India?
The test costs INR 20,000 (Rs 20000) at DNA Labs India. The price includes a pre-test genetic counselling session and free home sample collection in many cities across India.
What symptoms are associated with MED23-related MRT18?
Common symptoms include intellectual disability, delayed speech and language development, delayed motor development, behavioural problems, abnormal facial features, and seizures. The severity can vary significantly among affected individuals.
Why is genetic testing needed for MRT18?
MRT18 is a rare condition and its clinical features overlap with many other neurodevelopmental syndromes. Genetic testing helps identify the specific MED23 gene variant, provides a definitive diagnosis, guides supportive management, and allows accurate family counselling.
What sample is required for this NGS genetic test?
The test can be performed on whole blood in an EDTA tube, extracted DNA, or a single drop of blood spotted on an FTA card. The preferred sample should be collected according to the instructions provided by DNA Labs India.
Do I need to fast before the MED23 gene test?
No, fasting is not required. The test can be done at any time of the day. It is important, however, to complete the recommended genetic counselling before sample collection.
How long will the test report take?
The clinical report is usually issued within 3 to 4 weeks after the sample reaches the laboratory. The actual time may depend on sample quality, complexity of variants, and any need for confirmatory Sanger sequencing.
Will I receive raw data files with the test report?
Yes, DNA Labs India provides Raw Data, FASTQ, and VCF files along with the conclusive clinical report. This is done to maintain transparency and allow independent review of the sequencing data.
Can home sample collection be arranged for this test?
Yes, DNA Labs India offers free home sample collection for online bookings of this test across major cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, and many other locations.
What do the test results mean?
A negative result means no pathogenic or likely pathogenic variant was found in MED23. A positive result with homozygous or compound heterozygous pathogenic variants confirms the diagnosis of MED23-related autosomal recessive intellectual disability type 18. A variant of uncertain significance may require further family testing.
Who should consider this MED23 gene NGS test?
It is recommended for individuals with unexplained intellectual disability or global developmental delay, delayed speech and motor milestones, behavioural problems, seizures, or a family history consistent with autosomal recessive intellectual disability. A neurologist, paediatrician, or clinical geneticist may order the test.
Is this test useful for reproductive or family planning counselling?
Yes. If a pathogenic MED23 variant is identified, pre-test genetic counselling and family testing can help determine recurrence risk in future pregnancies. Carrier testing for at-risk relatives and prenatal or preimplantation genetic testing may be discussed with a clinical genetics specialist.
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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