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RAB23 Gene Carpenter syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RAB23 Gene Carpenter syndrome NGS Genetic Test

Short Name: RAB23 Carpenter Syndrome Test

Also known as: Acrocephalopolysyndactyly type II

RAB23 Gene Carpenter syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 the RAB23 Gene Carpenter Syndrome NGS Genetic Test is to confirm the diagnosis of Carpenter syndrome by detecting pathogenic mutations in the RAB23 gene using Next-Generation Sequencing technology. This aids in early detection, genetic counseling, and management of the condition.

Test Code
5692
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)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with Carpenter syndrome.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card for one drop of blood.

Step 3

Report Delivery

Sample will be processed for NGS analysis. Reports will be delivered in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Report delivery and genetic counseling to discuss results and management options.

About This Test

Who Should Get This Test

The purpose of the RAB23 Gene Carpenter Syndrome NGS Genetic Test is to confirm the diagnosis of Carpenter syndrome by detecting pathogenic mutations in the RAB23 gene using Next-Generation Sequencing technology. This aids in early detection, genetic counseling, and management of the condition.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly
  • Transport at ambient room temperature

Doctor's Notes

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

"Early genetic testing for Carpenter syndrome can guide management and improve outcomes for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the RAB23 gene associated with Carpenter syndrome.
📊

Pathogenic variant detected

Confirms diagnosis of Carpenter syndrome; genetic counseling recommended.

📊

No pathogenic variant detected

Carpenter syndrome unlikely based on genetic testing; clinical correlation advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed; consult geneticist.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms of Carpenter syndrome are present, such as craniosynostosis or polydactyly, or if genetic test results indicate a pathogenic variant.

Limitations

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

Risks & Considerations

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

Interfering Factors

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

Compare With Similar Tests

TestRAB23 Gene Carpenter syndrome NGS Genetic TestRAB23 Gene SequencingCraniosynostosis Genetic PanelPolydactyly Genetic TestObesity Genetic Panel
ComparisonRAB23 Gene Carpenter syndrome NGS Genetic Test

Frequently Asked Questions

What is Carpenter syndrome?
Carpenter syndrome is a rare genetic disorder characterized by skeletal abnormalities like craniosynostosis and polydactyly, along with obesity, intellectual disability, and other features.
What causes Carpenter syndrome?
It is caused by mutations in the RAB23 gene, inherited in an autosomal recessive pattern.
What are the symptoms of Carpenter syndrome?
Common symptoms include craniosynostosis, polydactyly, obesity, intellectual disability, dental abnormalities, facial abnormalities, and heart defects.
How is Carpenter syndrome diagnosed?
Diagnosis involves clinical examination and genetic testing, such as NGS to detect RAB23 gene mutations.
What is the cost of the RAB23 Gene Carpenter Syndrome NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with possible variations based on location and method.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What should I do if the test results are positive?
Consult a healthcare professional or geneticist for further evaluation, management, and genetic counseling.
Can this test detect all mutations in the RAB23 gene?
NGS is comprehensive but may not detect all types of mutations; limitations should be discussed with a geneticist.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is advised to understand the implications of testing and results for the patient and family.
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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