ARID1A Gene Mental retardation, autosomal dominant type 14 NGS Genetic Test
Short Name: ARID1A NGS Genetic Test
Also known as: ARID1A Gene Mutation Test, MRD14 NGS Genetic Test, ARID1A Sequencing
ARID1A Gene Mental retardation, autosomal dominant type 14 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered in 3 to 4 weeks from the date of sample receipt. Additional time may be required if confirmatory Sanger sequencing or family studies are needed.. 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 mutations in the ARID1A gene associated with Mental Retardation, Autosomal Dominant Type 14 (MRD14). This testing utilises advanced sequencing technology to analyse specific regions of the genome and identify pathogenic nucleotide changes with high accuracy, thus confirming the clinical diagnosis and enabling appropriate genetic counselling.
- Test Code
- 4227
- CPT Code
- 81405
- ICD Code
- F70.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered in 3 to 4 weeks from the date of sample receipt. Additional time may be required if confirmatory Sanger sequencing or family studies are needed.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
A Genetic Counselling session is required before the test to draw a pedigree chart of family members affected with ARID1A Gene Mental retardation, autosomal dominant type 14. No fasting or special preparation is needed.
Method: Venipuncture / FTA spot
Laboratory Analysis
A trained phlebotomist will collect 2 ml of peripheral blood in an EDTA vacutainer. Alternatively, a few drops of blood on an FTA card or extracted DNA sample can be provided.
Report Delivery
No specific aftercare is required. Patients may resume normal activities immediately.
Timeline: Reports are delivered in 3 to 4 weeks from the date of sample receipt. Additional time may be required if confirmatory Sanger sequencing or family studies are needed.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect mutations in the ARID1A gene associated with Mental Retardation, Autosomal Dominant Type 14 (MRD14). This testing utilises advanced sequencing technology to analyse specific regions of the genome and identify pathogenic nucleotide changes with high accuracy, thus confirming the clinical diagnosis and enabling appropriate genetic counselling.
How to Prepare
- Pre-test genetic counselling is mandatory; a pedigree chart will be drawn.
- Use an EDTA vacutainer for blood collection (minimum 2 ml).
- Labels must contain patient name, UID, and date of collection.
- For FTA card, apply a single drop of blood onto the designated circle and air dry for 30 minutes.
- Ship the sample at ambient temperature using appropriate biohazard packaging.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for intellectual disability enables precision counselling, recurrence risk assessment, and early supportive interventions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labelled sample
- Insufficient blood volume (<1 ml)
- Haemolysed specimen
- Clotted or plasma sample instead of whole blood
- Sample leaking or in a non-sterile container
Understanding Your Results
No pathogenic variants detected
Negative for known disease-causing mutations in ARID1A. Does not rule out alternative genetic or environmental etiologies.
Variant of uncertain significance (VUS)
A variant was found but clinical significance is unknown. Additional family studies and functional analysis may be recommended.
Pathogenic or likely pathogenic variant detected
Confirms the molecular diagnosis of Mental Retardation, Autosomal Dominant Type 14. Genetic counselling and family testing recommended.
If you or your child have unexplained intellectual disability, global developmental delay, speech/motor delays, or a family history of ARID1A-associated MRD14, consult a clinical geneticist or neurologist to discuss genetic testing and counselling.
Limitations
- ⚠This test is designed to detect sequence variants in the coding regions and intron-exon boundaries of the ARID1A gene.
- ⚠It does not detect large genomic rearrangements (deletions/duplications), epigenetic mutations, mitochondrial disorders, or variants in other genes.
- ⚠Low-level somatic mosaicism may not be reliably identified.
- ⚠Negative results do not entirely exclude a genetic cause; other testing modalities may be recommended.
Risks & Considerations
- ●Minimal biological risk: mild pain, bruising, or infection at the venipuncture site.
- ●Emotional and psychological stress from receiving a genetic diagnosis.
- ●Possible family implications and need for pre-test or post-test genetic counselling.
Interfering Factors
- ●Extensive DNA contamination from another individual
- ●Insufficient quantity of DNA
- ●Low sequencing coverage due to technical artifacts
- ●Large deletions, duplications, or structural rearrangements may not be detected by NGS sequencing alone
Compare With Similar Tests
| Test | ARID1A Gene Mental retardation, autosomal dominant type 14 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Fragile X Syndrome (FMR1) Test | Karyotyping | MECP2 Sequencing |
|---|---|---|---|---|---|---|
| Comparison | ARID1A Gene Mental retardation, autosomal dominant type 14 NGS Genetic Test | CMA detects copy number variations at high resolution but cannot identify single nucleotide variants. ARID1A NGS specifically targets point mutations in a single gene. | WES analyses all coding genes, whereas ARID1A NGS is a targeted single-gene test. WES is broader but more expensive and may be recommended if the phenotype is unclear. | Fragile X is the leading inherited cause of intellectual disability, but it is X-linked. ARID1A MRD14 is autosomal dominant. Clinical differentiation can be challenging. | Karyotyping detects large chromosomal anomalies only, such as trisomy or large deletions. It cannot detect subtle point mutations in ARID1A. | MECP2 is primarily associated with Rett syndrome in females. ARID1A mutations are a different genetic cause of intellectual disability. |
Frequently Asked Questions
What is ARID1A gene Mental retardation, autosomal dominant type 14?
How is the ARID1A NGS genetic test performed?
Which sample types are accepted for this test?
What does a positive result mean?
What does a negative result mean?
Is fasting required before the test?
Do I need genetic counselling before the test?
How long does it take to get the report?
Can home sample collection be arranged for this test?
Will this test detect all types of ARID1A mutations?
Can this test be used for prenatal diagnosis?
What is the cost of the ARID1A NGS genetic test?
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