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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 ACS Type 2 NGS Test

Also known as: Auriculocondylar Syndrome Type 2, ACS Type 2

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

NGS Genetic Test🏠 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

To detect pathogenic variants in the PLCB4 gene for definitive diagnosis of Auriculocondylar Syndrome Type 2, facilitating clinical management, treatment planning, and genetic counseling.

Test Code
2283
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS (Next Generation Sequencing)
Step 1

Sample Collection

Genetic counseling is recommended. No specific preparation required, but ensure proper identification and consent.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or use a saliva kit as specified.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store samples as instructed for stability.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling session recommended to draw a pedigree chart and discuss test implications.
2
During the Test:Sample collection via blood draw or saliva, followed by NGS analysis in the laboratory.
3
After the Test:Report generation, result interpretation, and post-test counseling provided.

About This Test

Who Should Get This Test

To detect pathogenic variants in the PLCB4 gene for definitive diagnosis of Auriculocondylar Syndrome Type 2, facilitating clinical management, treatment planning, and genetic counseling.

How to Prepare

  • Verify patient identity and consent
  • Use sterile collection equipment
  • Follow chain of custody protocols
  • Label samples accurately
  • Transport samples at ambient temperature unless specified

Doctor's Notes

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

"Early genetic diagnosis of Auriculocondylar Syndrome Type 2 is essential for timely interventions, including speech therapy, dental management, and surgical planning. Genetic counseling helps families understand inheritance patterns and make informed decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture

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 or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Genetic test results should be interpreted by a qualified geneticist or healthcare provider in the context of clinical symptoms and family history.
Positive result: Confirms diagnosis of ACS Type 2 due to PLCB4 mutation
Negative result: No pathogenic variant detected; consider other causes or repeat testing
Variant of uncertain significance: Requires further evaluation and clinical follow-up
⚠️ When to Consult a Doctor:

Consult a geneticist or ENT specialist if symptoms are present, for family planning, or to discuss test results and management options.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Limited to PLCB4 gene analysis

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Very low risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

TestPLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test
ComparisonPLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is Auriculocondylar Syndrome Type 2?
Auriculocondylar Syndrome Type 2 is a rare genetic disorder caused by mutations in the PLCB4 gene, characterized by abnormalities in ear and jaw development, leading to symptoms like malformed ears, cleft palate, and speech difficulties.
What causes Auriculocondylar Syndrome Type 2?
It is caused by mutations in the PLCB4 gene, which is involved in signaling pathways for ear and temporomandibular joint development. It is inherited in an autosomal dominant pattern.
What are the symptoms of ACS Type 2?
Common symptoms include malformed ears, cleft palate, misaligned teeth, TMJ abnormalities, small jaw, underdeveloped facial bones, speech difficulties, and sometimes hearing loss.
How is Auriculocondylar Syndrome Type 2 diagnosed?
Diagnosis is based on clinical symptoms and confirmed through genetic testing, such as the PLCB4 Gene NGS Test, which identifies mutations in the gene.
What is the PLCB4 Gene NGS Genetic Test?
It is a Next Generation Sequencing test that accurately detects mutations in the PLCB4 gene responsible for Auriculocondylar Syndrome Type 2, using blood or saliva samples.
How accurate is the NGS genetic test?
NGS technology is highly accurate and can identify a wide range of genetic variants with high sensitivity and specificity for diagnosing ACS Type 2.
What samples are required for the test?
The test can be performed on a blood sample, extracted DNA, or one drop of blood on an FTA card. Saliva samples may also be accepted.
How much does the test cost?
The cost of the PLCB4 Gene Auriculocondylar Syndrome Type 2 NGS Genetic Test in India is INR 20,000, which includes testing, analysis, and counseling services.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India, including Mumbai, Delhi, Bangalore, and others.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection, and reports can be accessed online, via email, or WhatsApp.
What should I do if the test is positive?
If positive, consult a geneticist or ENT specialist for management options, which may include speech therapy, dental interventions, or surgical planning. Genetic counseling is recommended.
Is genetic counseling necessary before testing?
Yes, genetic counseling is advised to understand the test implications, draw a family pedigree chart, and make informed decisions about diagnosis and family planning.
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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