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ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic Test

Short Name: ADNP Gene Test

Also known as: ADNP-related syndrome, ADNP gene disorder

ADNP Gene Helsmoortel-van der Aa syndrome 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. Free home collection in 300+ cities across India.

NGS Genetic TestPediatrics🏠 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 Helsmoortel-van der Aa syndrome NGS Genetic Test is to detect pathogenic variants in the ADNP gene, confirming a diagnosis of Helsmoortel-van der Aa syndrome in individuals presenting with symptoms such as intellectual disability, autism, and facial dysmorphology. This test aids in differential diagnosis, genetic counseling, and guiding clinical management.

Test Code
5757
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Ensure clinical history and pedigree chart are available for genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a pedigree chart.
2
During the Test:Blood sample collection and processing in the laboratory for NGS analysis.
3
After the Test:Report delivery and follow-up genetic counseling to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of the ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic Test is to detect pathogenic variants in the ADNP gene, confirming a diagnosis of Helsmoortel-van der Aa syndrome in individuals presenting with symptoms such as intellectual disability, autism, and facial dysmorphology. This test aids in differential diagnosis, genetic counseling, and guiding clinical management.

How to Prepare

  • Fast for 8-12 hours if specified, though not required for this test.
  • Bring identification and prescription.
  • Inform staff of any medications or health conditions.

Doctor's Notes

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

"Early genetic testing for ADNP gene mutations can facilitate timely diagnosis and management of Helsmoortel-van der Aa syndrome, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at ambient temperature for 48 hours
Store at 2-8°C if delayed
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ADNP gene. Positive results confirm Helsmoortel-van der Aa syndrome, while negative results may require further testing if clinical suspicion remains high.
📊

Positive

Pathogenic variant detected, confirming diagnosis of Helsmoortel-van der Aa syndrome.

📊

Negative

No pathogenic variants detected; consider other diagnoses or additional genetic testing.

📊

Variant of uncertain significance

Further evaluation and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider if symptoms of Helsmoortel-van der Aa syndrome are present, or after receiving test results for interpretation and management planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Compare With Similar Tests

TestADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic TestWhole Exome SequencingChromosomal MicroarraySingle Gene SequencingFISH Test
ComparisonADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic Test

Frequently Asked Questions

What is ADNP Gene Helsmoortel-van der Aa syndrome?
It is a rare genetic disorder caused by mutations in the ADNP gene, characterized by intellectual disability, autism, and distinct facial features.
What are the symptoms of this syndrome?
Symptoms include intellectual disability, autism spectrum disorder, delayed speech, motor delays, behavioral issues, and sleep disturbances.
How is the syndrome diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS Genetic Test to identify ADNP gene mutations.
What is the cost of the NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
A blood sample is required, collected via venipuncture.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks.
How are the results delivered?
Results are delivered via online portal, email, or WhatsApp.
Is home sample collection available?
Yes, free home sample collection is available across many cities in India.
What should I do if the test is positive?
Consult a geneticist or healthcare provider for interpretation, management, and genetic counseling.
Can this test detect all variants in the ADNP gene?
NGS is comprehensive but may not detect all variants; genetic counseling is recommended for interpretation.
Is genetic counseling included with the test?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss results.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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