DEAF1 Gene Mental retardation, autosomal dominant type 24 NGS Genetic Test
Short Name: DEAF1 Gene MRD24 NGS
Also known as: DEAF1 Gene Mutation Analysis, MRD24 NGS Test, Intellectual Disability NGS Panel, DEAF1 Related Intellectual Disability Genetic Test
DEAF1 Gene Mental retardation, autosomal dominant type 24 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 turn-around time for the DEAF1 gene NGS genetic test is 3 to 4 weeks. Reports are delivered via email, WhatsApp, and the online patient portal. Raw data from NGS is analyzed using internationally validated pipelines and reviewed by molecular geneticists.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this DEAF1 gene NGS genetic test is to identify disease-causing mutations in the DEAF1 gene that underlie Mental Retardation, Autosomal Dominant Type 24. The test aids in establishing a precise molecular diagnosis in individuals presenting with intellectual disability, developmental delay, speech and language impairments, behavioral problems, and other suggestive clinical features. It also assists in genetic counseling, recurrence risk assessment, and family planning decisions. Additionally, the test may help distinguish MRD24 from other causes of intellectual disability, enabling tailored management and surveillance.
- Test Code
- 4238
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The turn-around time for the DEAF1 gene NGS genetic test is 3 to 4 weeks. Reports are delivered via email, WhatsApp, and the online patient portal. Raw data from NGS is analyzed using internationally validated pipelines and reviewed by molecular geneticists.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Fasting is not necessary. Please carry any previous medical records, referrals, and family history details. A genetic counseling session will be arranged before sample collection to draw a pedigree and discuss the test implications.
Method: Venous blood collection / Finger-prick blood spot
Laboratory Analysis
A trained phlebotomist will collect a venous blood sample (2-3 mL) in an EDTA vacutainer. Alternatively, one drop of blood can be collected on an FTA card for finger-prick sampling. The procedure is quick and usually takes less than 5 minutes.
Report Delivery
After sample collection, you can return to normal activities immediately. There are no dietary or activity restrictions. The sample will be transported to the laboratory under controlled conditions to ensure stability.
Timeline: The turn-around time for the DEAF1 gene NGS genetic test is 3 to 4 weeks. Reports are delivered via email, WhatsApp, and the online patient portal. Raw data from NGS is analyzed using internationally validated pipelines and reviewed by molecular geneticists.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this DEAF1 gene NGS genetic test is to identify disease-causing mutations in the DEAF1 gene that underlie Mental Retardation, Autosomal Dominant Type 24. The test aids in establishing a precise molecular diagnosis in individuals presenting with intellectual disability, developmental delay, speech and language impairments, behavioral problems, and other suggestive clinical features. It also assists in genetic counseling, recurrence risk assessment, and family planning decisions. Additionally, the test may help distinguish MRD24 from other causes of intellectual disability, enabling tailored management and surveillance.
How to Prepare
- For EDTA blood: Fill the vacutainer to the indicated mark and mix gently by inverting 8-10 times.
- For FTA card: Apply from a single finger-prick drop without touching the card.
- Label the sample with the patient's name and unique ID.
- Maintain sample at room temperature (15-30°C) for up to 72 hours if shipping; for longer storage, refrigerate at 2-8°C.
- Do not freeze whole blood.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Understanding the genetic basis of intellectual disability is crucial for families. This targeted NGS test can guide clinical management and reproductive decisions. We recommend pre-test genetic counseling to fully understand the implications of results."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolyzed or clotted blood sample
- Insufficient volume (< 0.5 mL blood)
- Improperly labelled or unlabelled sample
- Sample received without signed consent form
- Samples that have been frozen or exposed to extreme heat
Understanding Your Results
Pathogenic variant
Clinical action: Confirms the diagnosis of MRD24. Genetic counseling and family cascade testing are recommended.
Likely pathogenic variant
Clinical action: High probability of being causative; may be considered for clinical management after review by a multidisciplinary team.
Variant of uncertain significance (VUS)
Clinical action: Insufficient evidence for a definitive diagnosis; further segregation analysis, in-silico studies, and functional assays are advised.
Benign or likely benign variant
Clinical action: Not cause of disease; clinical evaluation should continue if necessary.
No pathogenic variant detected
Clinical action: Does not exclude MRD24. Consider re-analysis, other genetic tests, or a broader multigene panel.
Consult a medical geneticist, pediatric neurologist, or genetic counselor if you or your child has unexplained intellectual disability, developmental delay, speech delay, seizures, or behavioral issues. Also consult if there is a known family history of DEAF1-related disorders or if you are planning a family after a diagnosis. Genetic testing should always be accompanied by professional genetic counseling.
Limitations
- ⚠NGS may not detect all types of mutations, including large chromosomal rearrangements, deep intronic variants, trinucleotide repeat expansions, or epigenetic alterations
- ⚠The test is targeted to the DEAF1 gene only and does not assess other genes associated with intellectual disability
- ⚠Results should always be interpreted in the context of clinical history and by a qualified clinical geneticist
- ⚠A negative test does not exclude the diagnosis of MRD24 because causative variants outside the analyzed regions or in regulatory regions may be missed
- ⚠Variant of uncertain significance (VUS) results may require further familial segregation analysis
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Light-headedness or fainting during blood collection
- ●Infection (very low risk; sterile technique is used)
- ●Psychological impact of possible genetic findings
Interfering Factors
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in blood samples (rare)
- ●Sample degradation due to improper storage or shipping
- ●Known genetic variants in primer binding sites leading to allele dropout (rare)
Compare With Similar Tests
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| Comparison | DEAF1 Gene Mental retardation, autosomal dominant type 24 NGS Genetic Test |
Frequently Asked Questions
What is the DEAF1 gene?
What is Mental Retardation, Autosomal Dominant Type 24 (MRD24)?
What symptoms are associated with DEAF1 mutations?
How is this NGS genetic test performed?
Is fasting required before the DEAF1 gene NGS test?
What type of sample is needed?
How long will it take to get the test results?
What does a 'pathogenic variant' mean?
Can this test predict the severity of the condition?
Is this test available in my city?
Are there any risks from giving a blood sample?
How should I prepare for a genetic counseling session?
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