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HDAC8 Gene Cornelia de Lange syndrome type 5 NGS Genetic Test

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HDAC8 Gene Cornelia de Lange syndrome type 5 NGS Genetic Test

Short Name: HDAC8 CdLS Type 5 NGS Test

Also known as: CdLS Type 5, HDAC8-related Cornelia de Lange Syndrome

HDAC8 Gene Cornelia de Lange syndrome type 5 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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 detect mutations in the HDAC8 gene for the diagnosis of Cornelia de Lange Syndrome Type 5, enabling accurate clinical management and genetic counseling.

Test Code
4873
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
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Cornelia de Lange Syndrome.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture or finger prick, with sample stored in appropriate containers.

Step 3

Report Delivery

Sample is transported to the lab under ambient conditions for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before sample collection.
2
During the Test:NGS technology is used to sequence the HDAC8 gene and identify mutations.
3
After the Test:Results are reviewed by a geneticist, and a detailed report is provided with recommendations.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the HDAC8 gene for the diagnosis of Cornelia de Lange Syndrome Type 5, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Provide detailed clinical history
  • Ensure genetic counseling is completed
  • Use sterile collection techniques
  • Label samples correctly

Doctor's Notes

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

"This NGS test is essential for confirming HDAC8 gene mutations in suspected Cornelia de Lange Syndrome Type 5, aiding in accurate diagnosis and family counseling."

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 of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

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 sample volume
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the HDAC8 gene. Positive results confirm diagnosis, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of Cornelia de Lange Syndrome Type 5; genetic counseling recommended.

📊

Negative for pathogenic variant

No mutation detected; clinical correlation and additional tests may be needed.

📊

Variant of uncertain significance

Further evaluation and family studies advised.

⚠️ When to Consult a Doctor:

If symptoms of Cornelia de Lange Syndrome are present, or if there is a family history of the disorder, consult a geneticist or pediatrician for evaluation.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may take 3-4 weeks

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestHDAC8 Gene Cornelia de Lange syndrome type 5 NGS Genetic TestNIPBL Gene CdLS Type 1 TestSMC1A Gene CdLS Type 2 TestWhole Exome Sequencing
ComparisonHDAC8 Gene Cornelia de Lange syndrome type 5 NGS Genetic TestTests for mutations in NIPBL gene, common in CdLS Type 1.Targets SMC1A gene mutations for CdLS Type 2.Broader genetic test that may include HDAC8 but is more comprehensive.

Frequently Asked Questions

What is the HDAC8 Gene Cornelia de Lange Syndrome Type 5 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the HDAC8 gene, causing Cornelia de Lange Syndrome Type 5.
What are the symptoms of Cornelia de Lange Syndrome Type 5?
Symptoms include low birth weight, delayed growth, facial abnormalities, developmental delays, and mental retardation.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to identify HDAC8 gene mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
Who should consider this test?
Individuals with symptoms of Cornelia de Lange Syndrome or a family history of the disorder.
What does a positive result mean?
A positive result confirms a diagnosis of Cornelia de Lange Syndrome Type 5 due to an HDAC8 gene mutation.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to interpret results.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but emotional impacts should be considered.
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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