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ANK3 Gene Mental retardation, autosomal recessive type 37 NGS Genetic Test

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ANK3 Gene Mental retardation, autosomal recessive type 37 NGS Genetic Test

Short Name: ANK3 NGS Genetic Test

Also known as: ANK3-related intellectual disability, Mental retardation, autosomal recessive type 37, MRT37

ANK3 Gene Mental retardation, autosomal recessive type 37 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 to 4 weeks after sample receipt. Free home collection in 300+ cities across India.

NGS TechnologyAll Ages🏠 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 identify pathogenic variants in the ANK3 gene and confirm whether the patient's symptoms are caused by autosomal recessive mental retardation type 37. A molecular diagnosis supports clinical management, surveillance and recurrence-risk counselling for families.

Test Code
4262
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample receipt
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended before testing to discuss clinical details, draw a pedigree chart, and obtain informed consent.

Method: Venipuncture or FTA spot collection

Step 2

Laboratory Analysis

A small sample of blood or a single drop on an FTA card is collected. The procedure is quick and no anesthesia is needed.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be transported to the laboratory for processing.

Timeline: 3 to 4 weeks after sample receipt

Patient Instructions

1
Before the Test:A genetic counselling session is required before the test to draw a family pedigree and discuss the relevance and limitations of NGS testing.
2
During the Test:A blood sample or FTA card sample is collected. The sample is then sent to the laboratory for DNA extraction and NGS sequencing.
3
After the Test:The laboratory will analyze the sequencing data, classify variants, and release the clinical report in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the ANK3 gene and confirm whether the patient's symptoms are caused by autosomal recessive mental retardation type 37. A molecular diagnosis supports clinical management, surveillance and recurrence-risk counselling for families.

How to Prepare

  • No fasting is required
  • A genetic counselling session and informed consent are recommended
  • Carry the patient's clinical history and relevant investigation reports
  • Book online for free home sample collection

Doctor's Notes

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

"Identifying the genetic cause of intellectual disability has important implications for family planning. Once an ANK3 pathogenic variant is confirmed, families can receive recurrence risk counselling and discuss reproductive options."

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 requirement
ContainerEDTA vacutainer / DNA vial / FTA card
Collection MethodVenipuncture or FTA spot collection

Sample Stability

Blood in EDTA vacutainer24-48 hours
FTA card / dried blood spotAs per collection kit instructions
Extracted DNALong-term storage
Sample Rejection Criteria:
  • Clotted blood sample in EDTA tube
  • Insufficient sample quantity
  • Damaged or wet FTA card
  • Sample without proper patient identification or consent
  • Visible contamination or leakage

Understanding Your Results

The result is interpreted in the context of the patient's clinical presentation and family history. Genetic counselling is strongly recommended before and after testing.
📊

Negative / No pathogenic variant detected in ANK3

No evidence of ANK3-related autosomal recessive mental retardation type 37 was found. Other genetic or non-genetic causes of intellectual disability should still be considered.

📊

Positive / Pathogenic or Likely Pathogenic variant in ANK3

Confirms the molecular diagnosis in a clinically relevant setting and allows accurate recurrence-risk counselling.

📊

Variant of Uncertain Significance (VUS)

The variant requires further evaluation. Family segregation analysis and additional clinical correlation may be advised.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, pediatrician or neurologist if a child has unexplained global developmental delay, seizures, intellectual disability, or a family history of autosomal recessive mental retardation. After a positive or uncertain result, genetic counselling is essential.

Limitations

  • ⚠This test is targeted to the ANK3 gene and will not evaluate other genes associated with intellectual disability.
  • ⚠Deep intronic variants, large copy-number changes, and repeat expansions may not be detected by this test.
  • ⚠A variant of uncertain significance may be reported; additional family testing may be required.
  • ⚠Results should always be interpreted together with clinical findings and genetic counselling.

Risks & Considerations

  • ●No significant physical risks
  • ●Slight pain or bruising at the blood collection site
  • ●Minor risk of hematoma
  • ●Emotional or psychological stress related to genetic results

Interfering Factors

  • ●Low DNA concentration or degraded DNA
  • ●Sample contamination with another individual's DNA
  • ●Insufficient sequencing coverage in some regions
  • ●Mislabeling or improper specimen collection
  • ●Presence of large genomic rearrangements not detected by standard NGS

Compare With Similar Tests

TestANK3 Gene Mental retardation, autosomal recessive type 37 NGS Genetic TestTargeted ANK3 NGSIntellectual Disability NGS PanelWhole Exome Sequencing
ComparisonANK3 Gene Mental retardation, autosomal recessive type 37 NGS Genetic Test

Frequently Asked Questions

What is the ANK3 Gene Mental Retardation, Autosomal Recessive Type 37 NGS Genetic Test?
It is a targeted next-generation sequencing test that checks for disease-causing variants in the ANK3 gene associated with autosomal recessive mental retardation type 37.
What does the ANK3 gene do?
The ANK3 gene provides instructions for ankyrin-G, a protein important for neuronal development and function. Changes in this gene can impair brain development and lead to intellectual disability.
What is the cost of this test at DNA Labs India?
The test costs INR 20,000 at DNA Labs India, inclusive of sample collection and genetic analysis for online bookings.
What sample is required for this test?
The test can be performed on a blood sample, extracted DNA sample, or one drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
How long does it take to get the report?
Reports are generally issued within 3 to 4 weeks from the date of sample receipt.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India.
Who should consider this test?
This test may be considered in individuals with unexplained intellectual disability, developmental delay, speech delay, seizures, behavioral problems, or a family history suggestive of autosomal recessive mental retardation.
What does a negative result mean?
A negative result means no disease-causing variant was found in the ANK3 gene. It does not rule out all genetic or non-genetic causes of intellectual disability.
What are the common symptoms of ANK3-associated mental retardation?
Common symptoms include intellectual disability, delayed speech and language development, behavioral problems, seizures, abnormal head size, and unusual facial features.
How is NGS testing different from targeted mutation testing?
NGS can sequence large stretches of DNA and identify many types of variants in the ANK3 gene, whereas targeted mutation testing only looks for a specific known mutation.
Can this test detect other genetic causes of mental retardation?
No, this test is specifically designed for the ANK3 gene. Other causes of mental retardation would require broader testing such as a multi-gene panel, whole exome sequencing, or chromosomal analysis.
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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