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PLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test

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PLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test

Short Name: PLCB4 ACS2 NGS Test

Also known as: Auriculocondylar Syndrome Type 2, ACS2

PLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the PLCB4 gene for diagnosis of Auriculocondylar Syndrome Type 2.

Test Code
5657
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS
Step 1

Sample Collection

Clinical history and genetic counseling recommended.

Method: Blood Collection

Step 2

Laboratory Analysis

Blood sample collection via venipuncture.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent.
2
During the Test:Sample processing and NGS analysis.
3
After the Test:Report generation and genetic counseling for results.

About This Test

Who Should Get This Test

To detect mutations in the PLCB4 gene for diagnosis of Auriculocondylar Syndrome Type 2.

How to Prepare

  • Collect blood sample in appropriate container
  • Use FTA card for one drop blood if applicable
  • Ensure proper labeling and transport

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for PLCB4 mutations is crucial for confirming Auriculocondylar Syndrome Type 2 and guiding management. Early diagnosis can help address complications like hearing loss and developmental delays."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Collection

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Results indicate presence or absence of pathogenic variants in PLCB4 gene.
Positive: Pathogenic variant detected, consistent with Auriculocondylar Syndrome Type 2
Negative: No pathogenic variants detected
Variant of uncertain significance: Further testing and clinical correlation recommended
⚠️ When to Consult a Doctor:

If symptoms of Auriculocondylar Syndrome Type 2 are present, or for family planning if carrier status is identified.

Limitations

  • May not detect all mutations
  • Requires genetic counseling
  • Results may have variants of uncertain significance

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of genetic results

Interfering Factors

  • Poor sample quality
  • Contamination

Compare With Similar Tests

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ComparisonPLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is Auriculocondylar Syndrome Type 2?
Auriculocondylar Syndrome Type 2 (ACS2) is a rare genetic disorder that affects the development of the ear and jaw, caused by mutations in the PLCB4 gene.
What causes ACS2?
ACS2 is caused by mutations in the PLCB4 gene, which is involved in craniofacial development.
What are the symptoms of ACS2?
Symptoms include abnormally shaped ears, small jaw, cleft palate, speech difficulties, abnormal facial features, difficulty swallowing, and breathing difficulties.
How is ACS2 diagnosed?
Diagnosis is based on clinical symptoms and confirmed through genetic testing, such as the PLCB4 Gene NGS Genetic Test.
What is the PLCB4 Gene NGS Genetic Test?
It is an advanced genetic test using Next-Generation Sequencing to detect mutations in the PLCB4 gene for diagnosing ACS2.
What is the cost of the test in India?
The cost is INR 20000 at DNA Labs India, with home collection available.
How is the test performed?
The test analyzes a blood or DNA sample using NGS technology to identify mutations in the PLCB4 gene.
What sample is required?
Blood, extracted DNA, or one drop blood on an FTA card.
How long does it take to get results?
Reports are typically delivered in 3-4 weeks.
Is home collection available?
Yes, free home sample collection is available for online bookings across India.
What should I do if the test is positive?
Consult a genetic counselor or healthcare professional for management options and family planning advice.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
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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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.

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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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