CRBN Gene Mental retardation, autosomal recessive type 2 NGS Genetic Test
Short Name: CRBN Gene NGS Test
Also known as: Autosomal Recessive Mental Retardation Type 2, CRBN-related Intellectual Disability, Mental Retardation, Autosomal Recessive Type 2, CRBN Gene Mutation Test
CRBN Gene Mental retardation, autosomal recessive type 2 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 available in 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect disease-causing variants in the CRBN gene, confirming the diagnosis of autosomal recessive type 2 mental retardation, enabling appropriate medical management and genetic counseling.
- Test Code
- 4256
- ICD Code
- F70-F79
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available in 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. No special preparation is needed. Patients must provide a valid prescription or genetic counseling referral if requested. For FTA card, ensure hands are clean before sample collection.
Method: Venipuncture / FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect 3 ml of blood in an EDTA vacutainer, or a spot of blood is placed on the FTA card. The procedure is quick and minimally invasive.
Report Delivery
For blood samples, keep the tube upright and store at room temperature (18-25°C). For FTA card, allow the spot to dry completely before placing in the provided envelope. The sample can be transported with the diagnostic laboratory at the earliest.
Timeline: Reports are available in 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect disease-causing variants in the CRBN gene, confirming the diagnosis of autosomal recessive type 2 mental retardation, enabling appropriate medical management and genetic counseling.
How to Prepare
- Blood sample in EDTA vacutainer
- FTA card with one drop of blood
- Or extracted DNA (≥2 μg)
- Sample should be labeled with patient's name and date of birth
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A definitive genetic diagnosis of CRBN gene-related intellectual disability is essential for accurate recurrence-risk counseling, prenatal planning, and family education. This NGS-based test provides a reliable molecular confirmation within a clinically actionable timeframe."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Sample not appropriately labeled
- Blood received after more than 7 days from collection
Understanding Your Results
No pathogenic variant detected
The CRBN gene mutation was not found in this individual. This does not exclude all genetic causes of intellectual disability; other testing may be considered.
One pathogenic variant detected (heterozygous)
The individual is a carrier for autosomal recessive type 2 mental retardation. If both parents carry a variant, there is a 25% recurrence risk.
Two pathogenic variants detected (homozygous or compound heterozygous)
The individual is affected with autosomal recessive type 2 mental retardation. Genetic counseling is recommended for the family.
Variant of uncertain significance (VUS)
A variant was identified whose effect on protein function is not yet known. Additional familial testing or functional studies may be needed.
If you or your child exhibits intellectual disability, developmental delay, seizures, behavioral difficulties, or a family history of autosomal recessive mental retardation, consult a neurologist, pediatrician, or clinical geneticist. Also consult a doctor for post-test genetic counseling.
Limitations
- ⚠NGS may not detect large deletions, duplications, or rearrangements
- ⚠Deep intronic variants outside the analyzed region may be missed
- ⚠Variant of uncertain significance may require additional family studies
- ⚠Test does not exclude all possible genetic causes of intellectual disability
Risks & Considerations
- ●No significant physical risks associated with blood collection
- ●Minor pain or bruising at the venipuncture site
- ●Possible emotional distress upon receiving a positive result
Interfering Factors
- ●Incomplete clinical information may affect interpretation
- ●DNA contamination or degradation
- ●Insufficient quantity of DNA
- ●Sample mix-up
- ●Presence of maternal cell contamination (in prenatal samples)
Compare With Similar Tests
| Test | CRBN Gene Mental retardation, autosomal recessive type 2 NGS Genetic Test | Intellectual Disability NGS Panel | Chromosomal Microarray Analysis | Autosomal Recessive Mental Retardation Panel | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | CRBN Gene Mental retardation, autosomal recessive type 2 NGS Genetic Test |
Frequently Asked Questions
What is the CRBN gene mental retardation NGS genetic test?
Why is the CRBN gene associated with mental retardation?
Who should take this test?
What sample is required for this test?
What is the cost of this test at DNA Labs India?
How long does it take to receive the report?
Is fasting needed before the test?
Can I have a home sample collection?
Does a negative result rule out all forms of mental retardation?
What does a positive result mean?
Can this test help in prenatal diagnosis?
Will the test detect all possible CRBN gene mutations?
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