Skip to main content
DNA Labs India

HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic Test

Short Name: HDAC4 Gene BMR Syndrome NGS Test

Also known as: HDAC4-related syndrome, HDAC4 gene disorder, Brachydactyly-intellectual disability syndrome

HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), DNA Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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 mutations in the HDAC4 gene to diagnose Brachydactyly-mental retardation syndrome, guide clinical management, and provide genetic counseling for affected families.

Test Code
5684
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS), DNA Sequencing
Step 1

Sample Collection

Ensure genetic counseling session is completed and pedigree chart is drawn. No specific preparation required.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported to lab under ambient conditions. Follow-up counseling recommended.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review recommended.
2
During the Test:Sample collection and NGS analysis performed in lab.
3
After the Test:Report generation and counseling session to discuss results.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the HDAC4 gene to diagnose Brachydactyly-mental retardation syndrome, guide clinical management, and provide genetic counseling for affected families.

How to Prepare

  • Fast for not required
  • Bring clinical history and family details
  • Use sterile collection tubes

Doctor's Notes

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

"Early genetic testing for HDAC4 mutations is vital for timely intervention and management of brachydactyly-mental retardation syndrome, improving patient outcomes through personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate presence or absence of mutations in the HDAC4 gene. Positive results confirm diagnosis, while negative results may require further testing.
Pathogenic variant detected: Confirms syndrome
Variant of uncertain significance: Requires additional analysis
No variant detected: Syndrome unlikely but clinical correlation needed
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms are present or for family planning after positive results.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires interpretation by a geneticist
  • ⚠Results may need confirmation with other methods

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible emotional impact of results

Interfering Factors

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

Frequently Asked Questions

What is HDAC4 Gene Brachydactyly-mental retardation syndrome?
It is a rare genetic disorder caused by mutations in the HDAC4 gene, leading to short fingers/toes, intellectual disability, and other developmental issues.
What causes this syndrome?
Mutations in the HDAC4 gene, which regulates gene expression, cause the syndrome.
What are the common symptoms?
Symptoms include brachydactyly, delayed speech, intellectual disability, behavioral problems, seizures, and scoliosis.
How is the syndrome diagnosed?
Diagnosis is through genetic testing, specifically NGS to identify HDAC4 gene mutations.
What is the NGS Genetic Test?
Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that analyzes multiple genes efficiently.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for the test?
No, fasting is not required.
Who should consider this test?
Individuals with symptoms like short fingers/toes, intellectual disability, or a family history of the syndrome.
What are the treatment options after diagnosis?
Management includes supportive therapies, genetic counseling, and monitoring for complications; no cure exists, but early intervention helps.
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.

Related Tests

Amino Acids Qualitative Two Dimensional Urine Test

₹1,439

Succinylacetone Urine Test

₹5,000

RXFP2 Gene Cryptorchidism NGS Genetic Test

₹20,000

EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test

₹20,000

MNX1 Gene Currarino syndrome NGS Genetic Test

₹20,000

FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.