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SETD5 Gene Mental retardation, autosomal dominant type 23 NGS Genetic Test

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SETD5 Gene Mental retardation, autosomal dominant type 23 NGS Genetic Test

Short Name: SETD5 Gene NGS Test

Also known as: SETD5-related intellectual disability, Mental retardation, autosomal dominant type 23, MRD23, SETD5 gene mutation

SETD5 Gene Mental retardation, autosomal dominant type 23 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 3-4 weeks from sample receipt.. Free home collection in 300+ cities across India.

Genetic🏠 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 NGS test is to detect pathogenic variants in the SETD5 gene and confirm a molecular diagnosis of autosomal dominant mental retardation type 23. It is intended to support clinicians in diagnosing patients with symptoms suggestive of SETD5-related intellectual disability and to help guide patient management and family counselling.

Test Code
4241
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks from sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Please provide the clinical history, previous genetic test reports, and a pedigree chart when available. A genetic counselling session may be arranged to draw the family tree and to confirm that the test is appropriate.

Method: Venipuncture / Finger prick blood spot on FTA card / Submission of extracted DNA

Step 2

Laboratory Analysis

For a blood sample, a trained phlebotomist will draw blood into an EDTA tube. For FTA card collection, a small drop of blood obtained by a finger prick is applied to the card. No special procedure is required for extracted DNA.

Step 3

Report Delivery

The sample should be sent to the laboratory as per the instructions. There are no dietary or activity restrictions after sample collection.

Timeline: 3-4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No special preparation is required. However, a genetic counselling session may be scheduled to draw a pedigree chart and review the family history.
2
During the Test:The patient will provide blood, extracted DNA, or an FTA blood spot. The sample is then labelled and sent to the genetic laboratory for NGS analysis.
3
After the Test:After collection, the patient can resume normal activities. The laboratory will process the sample and share the report in 3-4 weeks. A post-test counselling session may be advised.

About This Test

Who Should Get This Test

The purpose of this NGS test is to detect pathogenic variants in the SETD5 gene and confirm a molecular diagnosis of autosomal dominant mental retardation type 23. It is intended to support clinicians in diagnosing patients with symptoms suggestive of SETD5-related intellectual disability and to help guide patient management and family counselling.

How to Prepare

  • No fasting is required
  • Inform the laboratory about any previous genetic testing
  • Provide a clear clinical summary and family history
  • Ensure the sample is labelled correctly
  • Use only the collection kit provided by DNA Labs India, if supplied

Doctor's Notes

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

"Genetics tests for neurodevelopmental disorders are best interpreted by a multidisciplinary team. When a couple has a family history of inherited intellectual disability, a referral to clinical genetics and a high-risk pregnancy clinic may be needed. This test helps provide recurrence risk counselling."

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 tube for blood; sterile tube for extracted DNA; FTA card for dried blood spot
Collection MethodVenipuncture / Finger prick blood spot on FTA card / Submission of extracted DNA

Sample Stability

Whole blood (EDTA): stable for 24-48 hours at 2-8°C
FTA card: stable for long-term storage at room temperature when air dried and protected from moisture
Extracted DNA: stable for months at -20°C
Sample Rejection Criteria:
  • Clotted or severely haemolysed blood
  • Improperly labelled or unlabelled sample
  • Sample transported at wrong temperature
  • Insufficient quantity of sample
  • Sample collected in a non-EDTA tube

Understanding Your Results

The clinical report should be read by the referring doctor and a clinical geneticist. Interpretation is based on variant classification according to ACMG guidelines and correlation with the patient's clinical phenotype and family history.
📊

Pathogenic or likely pathogenic variant detected

This confirms a molecular diagnosis of SETD5-related intellectual disability. Clinical correlation and genetic counselling are required.

📊

Variant of uncertain significance (VUS) detected

The detected variant is not yet clearly classified. Additional family studies, segregation analysis, and functional evaluation may be required.

📊

No pathogenic/likely pathogenic variant detected

This does not exclude a SETD5-related disorder. If clinical suspicion remains high, further genetic testing may be considered.

⚠️ When to Consult a Doctor:

A clinical genetics consultation is recommended when a pathogenic or likely pathogenic variant is reported, when a VUS is reported, or when the clinical suspicion persists despite a negative result.

Limitations

  • ⚠NGS targets coding exons and intron-exon boundaries of SETD5; it may not detect large deletions, duplications, repeat expansions or complex rearrangements
  • ⚠Variants of uncertain significance may be reported and require further investigation
  • ⚠A negative test result does not rule out SETD5-related intellectual disability or other genetic aetiologies
  • ⚠The test is for the SETD5 gene only and does not evaluate other genes associated with intellectual disability

Risks & Considerations

  • ●Minimal risk of bruising or discomfort at the blood collection site
  • ●Possible detection of incidental findings with implications for other family members
  • ●Psychological impact due to results
  • ●No physical risk if an extracted DNA or FTA card sample is provided

Interfering Factors

  • ●Poor DNA quantity or quality
  • ●Clotted or haemolysed blood samples
  • ●Contamination during sample handling
  • ●Variants outside the sequenced regions such as deep intronic or regulatory variants will not be detected
  • ●Low-level somatic mosaicism may not be detected

Compare With Similar Tests

TestSETD5 Gene Mental retardation, autosomal dominant type 23 NGS Genetic TestTargeted SETD5 gene NGSWhole Exome Sequencing (WES)Chromosomal Microarray (CMA)
ComparisonSETD5 Gene Mental retardation, autosomal dominant type 23 NGS Genetic Test

Frequently Asked Questions

What is the SETD5 gene?
The SETD5 gene provides instructions for making a protein involved in chromatin organisation and gene expression regulation. Pathogenic variants in SETD5 can disrupt normal brain development and lead to the features seen in autosomal dominant intellectual disability type 23.
What is autosomal dominant mental retardation type 23?
It is a genetic condition associated with mutations in the SETD5 gene. It follows an autosomal dominant pattern, which means one altered copy of the gene can cause the condition. The condition is characterised by intellectual disability, delayed speech, behavioural problems and sometimes epilepsy or autism.
Who should be tested for SETD5 gene mutations?
Testing is usually considered for individuals with unexplained intellectual disability or developmental delay, especially those with speech delay, behavioural issues, autism features or epilepsy. It is also considered when a previous genetic evaluation has not found a cause or when a family history is suggestive of this condition.
What sample is accepted for this test?
The accepted sample types are whole blood in EDTA, extracted DNA, or one drop of blood applied on an FTA card. The laboratory will provide collection instructions and transport guidelines when the test is booked.
Is fasting required before the test?
No. Fasting is not required for the SETD5 gene NGS test. The patient can follow their normal routine before providing the sample.
How much does the SETD5 gene NGS test cost at DNA Labs India?
The test price is Rs 20,000. This includes NGS analysis, bioinformatics, a detailed clinical report, and free home sample collection for online bookings in eligible cities.
When will I get the test report?
The report is usually ready within 3 to 4 weeks after the sample is received by the laboratory. The exact delivery time may depend on sample quality and the need for repeat confirmation.
What does it mean if a pathogenic variant is found in the SETD5 gene?
A pathogenic or likely pathogenic variant in SETD5 confirms the molecular diagnosis of autosomal dominant mental retardation type 23. It helps explain the clinical symptoms and can inform management and family counselling. Your doctor may suggest testing parents to assess recurrence risk.
What does a negative result mean?
A negative result means that no pathogenic variant was found in the analysed regions of SETD5. However, it does not completely exclude a diagnosis, as certain types of mutations may not be detected by the test. Other genetic or non-genetic causes should still be considered.
What are the risks of having this genetic test?
The physical risk is very low and limited to blood collection procedures. There are also potential psychological and family implications of a genetic diagnosis. Pre-test and post-test genetic counselling are strongly recommended to understand these implications.
Will I receive raw data and VCF files with my report?
Yes. DNA Labs India shares raw data, FASTQ, and VCF files along with the conclusive clinical report for this SETD5 gene test. You should ask for these files before booking if they are not automatically provided.
Is this test covered by insurance or government health schemes?
Coverage depends on your insurance policy and the scheme. Government schemes like PMJAY, CGHS, ECHS, and ESIC may not cover this test unless specifically approved. Please contact DNA Labs India to verify current coverage options.
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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