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ADNP Gene Mental retardation, autosomal dominant type 28 NGS Genetic Test

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ADNP Gene Mental retardation, autosomal dominant type 28 NGS Genetic Test

Short Name: ADNP Gene NGS Genetic Test

Also known as: ADNP-related intellectual disability, Autosomal dominant mental retardation type 28, ADNP syndrome, ADNP gene mutation analysis

ADNP Gene Mental retardation, autosomal dominant type 28 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 weeks from sample receipt. 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 the ADNP gene NGS genetic test is to detect a disease-causing variant in the ADNP gene in individuals presenting with intellectual disability, developmental delay, speech delay, autism-spectrum symptoms, or a family history consistent with autosomal dominant mental retardation type 28. Identification of a pathogenic ADNP variant supports a molecular diagnosis and may help in clinical management, recurrence risk assessment, and family planning.

Test Code
4247
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Fasting is not necessary. A genetic counselling session will be conducted to obtain the clinical history and draw a pedigree chart of family members affected with ADNP gene mental retardation. A referral from the treating doctor is recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

A small blood sample is collected from a vein in the arm by a qualified phlebotomist. The blood collection is quick and the sample is sent to the laboratory for NGS analysis.

Step 3

Report Delivery

You may resume normal activities immediately after sample collection. No dietary restrictions are needed. The report will be issued within 3 to 4 weeks and delivered through online portal, email, or WhatsApp.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Fasting is not required. Before sample collection, a genetic counselling session is conducted to record clinical history and draw a pedigree chart of affected family members. Please carry a doctor's prescription, previous reports, and informed consent form.
2
During the Test:A qualified technician will collect a small blood sample from a vein. The sample is stored and transported to the laboratory under controlled conditions.
3
After the Test:You can leave immediately after sample collection and resume normal routine. The laboratory will process the sample using NGS; reports will be shared with the treating physician after 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of the ADNP gene NGS genetic test is to detect a disease-causing variant in the ADNP gene in individuals presenting with intellectual disability, developmental delay, speech delay, autism-spectrum symptoms, or a family history consistent with autosomal dominant mental retardation type 28. Identification of a pathogenic ADNP variant supports a molecular diagnosis and may help in clinical management, recurrence risk assessment, and family planning.

How to Prepare

  • Carry a valid prescription or referral from the treating physician, if available
  • A genetic counsellor will draw a pedigree chart to record the family history
  • Inform the laboratory if the patient has had a bone marrow transplant, as this can affect genetic testing
  • Please carry previous medical records, clinical reports, and any prior genetic test results
  • Informed consent is required before blood sample collection

Doctor's Notes

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

"A child with developmental delay, intellectual disability, autism spectrum symptoms, or seizures should receive a detailed clinical evaluation. When ADNP-related syndrome is suspected, genetic testing can confirm the diagnosis, guide management, and allow accurate recurrence-risk counselling for the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume2-3 ml
ContainerEDTA vacutainer
Collection MethodVenipuncture

Sample Stability

Whole blood: 2-8°C for up to 72 hours after collection
Do not freeze whole blood
Extracted DNA: stable at 2-8°C for up to 2 weeks or -20°C for long-term storage
Sample Rejection Criteria:
  • Haemolysed or clotted blood sample
  • Incorrectly labelled or unlabelled sample
  • Sample received after prolonged transport without proper temperature control
  • Quantity not sufficient for DNA extraction and NGS analysis

Understanding Your Results

The genetic test report should only be evaluated by a qualified medical professional who will combine the genetic finding with clinical symptoms, family history, and other investigations. Do not make any treatment or medical decisions solely on the basis of the report without professional advice.
Positive result: A pathogenic or likely pathogenic variant identified in the ADNP gene is consistent with a diagnosis of ADNP-related intellectual disability.
Negative result: No pathogenic or likely pathogenic variant was detected in the ADNP gene. This does not exclude the clinical diagnosis and further genetic testing may be considered.
Variant of uncertain significance: A genetic change was found, but its effect on the ADNP protein is not yet understood. Additional family testing may help clarify its significance.
Inherited vs de novo: Genetic counselling is important to determine whether the variant was inherited from a parent or occurred as a de novo event, as this affects recurrence risk.
⚠️ When to Consult a Doctor:

Consult a paediatrician, neurologist, or clinical geneticist if the patient experiences global developmental delay, intellectual disability, autistic-like behaviour, speech delay, seizures, or regression of developmental milestones.

Limitations

  • ⚠This test only analyses the ADNP gene and does not rule out other genetic causes of intellectual disability
  • ⚠A negative result does not exclude a clinical diagnosis of ADNP-related disorder
  • ⚠Variants of uncertain significance may require additional family studies for interpretation
  • ⚠Chromosomal abnormalities and non-genetic causes of intellectual disability are not evaluated by this test

Risks & Considerations

  • ●Minimal risk of pain or bruising at the needle site
  • ●Rare risk of infection
  • ●Slight bleeding or dizziness during blood collection

Interfering Factors

  • ●Allogeneic haematopoietic stem cell transplant may lead to donor-derived DNA being detected
  • ●Maternal cell contamination in the blood sample may affect results
  • ●Samples that are haemolysed, clotted, or incorrectly stored may compromise DNA quality
  • ●The test may not detect certain types of variants such as large deletions, duplications, deep intronic variants, or epigenetic changes depending on the NGS assay

Compare With Similar Tests

TestADNP Gene Mental retardation, autosomal dominant type 28 NGS Genetic TestADNP-targeted NGSMulti-gene intellectual disability panelChromosomal microarrayWhole exome sequencing
ComparisonADNP Gene Mental retardation, autosomal dominant type 28 NGS Genetic Test

Frequently Asked Questions

What is the cost of the ADNP gene mental retardation type 28 NGS genetic test at DNA Labs India?
The test costs Rs 20,000 across India. The price includes professional interpretation of the NGS report and free home sample collection for online bookings.
What sample is needed for the ADNP gene NGS test?
A blood sample is required for DNA extraction. There is no need to fast before the test.
Does the test require fasting?
No, fasting is not required. The test can be done at any time of the day.
How long will the reports take?
Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.
What are the common symptoms of ADNP-related mental retardation type 28?
Common symptoms include global developmental delay, intellectual disability, speech and language problems, autism spectrum disorder, behavioural issues, and sometimes seizures. Symptoms vary from person to person.
How is ADNP gene mental retardation inherited?
It is inherited in an autosomal dominant pattern, meaning one altered copy of the ADNP gene is sufficient to cause the condition. Some cases may occur without a family history due to a de novo mutation.
Does a negative result mean my child does not have ADNP-related disorder?
A negative result means no pathogenic variant was found in the ADNP gene by this test. It does not rule out the clinical diagnosis or a genetic cause in another gene. Further evaluation may be needed.
What is a variant of uncertain significance?
A variant of uncertain significance is a genetic change whose effect on health is not yet known. If such a variant is found in the ADNP gene, the laboratory may need additional tests on family members to help interpret the result.
Will private health insurance cover this genetic test?
Insurance coverage depends on your individual policy and the payer's policy on genetic testing. We recommend checking directly with your insurance provider before booking.
Is genetic counselling required before and after the test?
Yes, genetic counselling is recommended. It helps document the family history, explain the risks and benefits of testing, guide informed consent, and discuss the clinical significance of results.
Can this NGS test detect all types of ADNP gene mutations?
NGS can detect many types of sequence variants, including single-nucleotide variants and small insertions or deletions within the analysed regions. It cannot detect all possible genetic alterations such as large deletions, duplications, deep intronic variants, or epigenetic changes.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings of this test in major 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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