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ARID1B Gene Mental retardation, autosomal dominant type 12 NGS Genetic Test

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ARID1B Gene Mental retardation, autosomal dominant type 12 NGS Genetic Test

Short Name: ARID1B NGS Test

Also known as: ARID1B gene mutation test, MRD12 genetic test, ARID1B gene sequencing test, Autosomal Dominant Intellectual Disability Type 12 NGS test

ARID1B Gene Mental retardation, autosomal dominant type 12 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / One drop blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks from the date of sample receiving.. 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 sequence variants in the ARID1B gene using next-generation sequencing. This helps confirm a clinical diagnosis of autosomal dominant mental retardation type 12, enabling genetic counselling, family risk assessment, and appropriate management planning.

Test Code
4229
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood / Extracted DNA / One drop blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks from the date of sample receiving.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counselling session may be scheduled to review the patient's history and family pedigree. Keep all clinical records ready.

Method: Blood draw / DNA extraction / FTA card spot

Step 2

Laboratory Analysis

A small blood sample will be collected in an EDTA tube, or an FTA card spot may be prepared. The collection takes only a few minutes.

Step 3

Report Delivery

There are no activity restrictions. The sample will be transported to the laboratory at ambient room temperature, and reports will be available in 3 to 4 weeks.

Timeline: Reports are issued within 3 to 4 weeks from the date of sample receiving.

Patient Instructions

1
Before the Test:No fasting required. Genetic counselling is recommended.
2
During the Test:A small blood/FTA sample is collected.
3
After the Test:No restrictions; await report.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic sequence variants in the ARID1B gene using next-generation sequencing. This helps confirm a clinical diagnosis of autosomal dominant mental retardation type 12, enabling genetic counselling, family risk assessment, and appropriate management planning.

How to Prepare

  • No fasting required
  • Maintain ambient room temperature during transport
  • Use EDTA tube for whole blood sample
  • Ensure proper patient identification on the sample
  • Submit any previous genetic reports, if available

Doctor's Notes

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

"A definitive molecular diagnosis in intellectual disability is not the end of the journey—it is the beginning of focused management and family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / One drop blood on FTA Card
Sample VolumeAs per laboratory requirement
ContainerEDTA tube / sterile DNA tube / FTA card
Collection MethodBlood draw / DNA extraction / FTA card spot
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Inadequate sample volume
  • Improper labeling
  • Sample not maintained at ambient temperature
  • FTA card not dried properly or damaged

Understanding Your Results

This test looks for causative variants in the ARID1B gene. Results should be correlated with clinical phenotype and family history. Genetic counselling is strongly recommended.
📊

Establishes the molecular diagnosis of ARID1B-related intellectual disability; genetic counselling recommended.

Result type: Pathogenic variant detected

📊

Consistent with the diagnosis; further familial testing may help confirm.

Result type: Likely pathogenic variant detected

📊

Does not confirm or exclude the diagnosis; additional testing/segregation analysis may be needed.

Result type: Variant of uncertain significance (VUS) detected

📊

ARID1B-related disorder cannot be completely excluded; other genetic causes should be considered.

Result type: No pathogenic variant detected

⚠️ When to Consult a Doctor:

If you or your family member has unexplained intellectual disability, developmental delay, speech/language delay, seizures, hypotonia, or behavioral problems, please consult a neurologist, paediatrician, or clinical geneticist.

Limitations

  • ⚠NGS may not detect large deletions/duplications, deep intronic mutations, repeat expansions, or structural rearrangements in the ARID1B gene.
  • ⚠Variants of uncertain significance (VUS) are possible and may require further family segregation studies.
  • ⚠This test is not intended to assess all causes of intellectual disability.
  • ⚠Only the ARID1B gene is covered; a multi-gene panel may be more suitable if the clinical phenotype is broad.

Risks & Considerations

  • ●Minimal risk of slight pain or bruising at the blood collection site.
  • ●Very small risk of infection at the venipuncture site.

Interfering Factors

  • ●Incorrect or incomplete clinical and family history
  • ●Poor DNA quality or quantity
  • ●Sample mix-up or mislabeling
  • ●Contamination during sample collection
  • ●Technical limitation in detecting certain mutation types

Compare With Similar Tests

TestARID1B Gene Mental retardation, autosomal dominant type 12 NGS Genetic TestARID1B NGS Genetic TestChromosomal Microarray Analysis (CMA)
ComparisonARID1B Gene Mental retardation, autosomal dominant type 12 NGS Genetic Test

Frequently Asked Questions

What is ARID1B?
ARID1B is a gene that provides instructions for a protein involved in chromatin remodeling and gene regulation. Mutations in this gene are associated with autosomal dominant mental retardation type 12 (MRD12) and Coffin-Siris syndrome.
What is MRD12?
MRD12 is a rare neurodevelopmental disorder characterised by moderate to severe intellectual disability, developmental delay, speech and language problems, behavioral issues, and sometimes seizures, hypotonia, and facial dysmorphism.
What does the ARID1B NGS genetic test do?
This test sequences the ARID1B gene using next-generation sequencing technology to look for disease-causing mutations that can confirm a clinical diagnosis of MRD12.
What is the cost of the test?
The test costs INR 20,000 in India. Free home sample collection is available for online bookings in many cities.
What sample is required?
The test can be done on whole blood in an EDTA tube, extracted DNA, or one drop of blood spotted on an FTA card.
Does this test require fasting?
No, fasting is not required. The sample can be collected at ambient room temperature.
How soon will I get results?
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Who should consider this test?
People with unexplained intellectual disability, global developmental delay, speech delay, behavioral problems, seizures, hypotonia, or suspicious facial features may be considered for this test after clinical evaluation.
Can MRD12 be inherited?
Yes, MRD12 follows autosomal dominant inheritance. Some cases are inherited from an affected parent, while others occur as new (de novo) mutations.
What do negative results mean?
A negative result means no disease-causing variant was found in ARID1B. It does not completely exclude MRD12, and other genetic or non-genetic causes of intellectual disability should be considered.
What are the risks of this test?
The main risk is associated with blood collection—minor pain, bruising, or rarely infection at the needle site.
How do I book this test?
You can book online through DNA Labs India website. The test offers free home sample collection in multiple cities across India.
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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