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ABCC9 Gene Cantu syndrome NGS Genetic Test

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ABCC9 Gene Cantu syndrome NGS Genetic Test

Short Name: Cantu Syndrome NGS Test

Also known as: Cantu syndrome, Hypertrichotic osteochondrodysplasia, ABCC9-related disorder

ABCC9 Gene Cantu syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 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 identify mutations in the ABCC9 gene for the diagnosis of Cantu syndrome, aiding in clinical management, genetic counseling, and family planning.

Test Code
5695
Price
₹20,000
Sample Type
Blood
Result Time
3-4 weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of family members.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising and keep the area clean.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of family members.
2
During the Test:A blood sample will be collected via venipuncture from a vein in the arm.
3
After the Test:Apply pressure to the puncture site with a cotton ball to prevent bruising and keep the area clean.

About This Test

Who Should Get This Test

To identify mutations in the ABCC9 gene for the diagnosis of Cantu syndrome, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Bring a valid ID and doctor's prescription
  • Inform the phlebotomist about any medications or health conditions
  • No specific fasting required, but follow any instructions from the healthcare provider

Doctor's Notes

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

"Genetic testing is essential for confirming Cantu syndrome and guiding management, especially for family planning and symptom monitoring."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Collection MethodVenipuncture

Sample Stability

Blood sample is stable for up to 48 hours at room temperature
For longer storage, refrigerate at 2-8°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Incorrect labeling or missing information
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ABCC9 gene, which is crucial for diagnosing Cantu syndrome.
Positive result: A pathogenic variant is detected, confirming the diagnosis of Cantu syndrome. Genetic counseling is recommended.
Negative result: No pathogenic variants are detected, but clinical correlation is necessary as symptoms may be due to other causes.
Variant of uncertain significance (VUS): A genetic variant is found, but its clinical significance is unclear. Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If you experience symptoms of Cantu syndrome, such as abnormal facial features or cardiac issues, or if there is a family history of the disorder, consult a geneticist or healthcare provider for evaluation and possible testing.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires interpretation by a qualified geneticist
  • ⚠Not intended for population screening
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or pain at the puncture site
  • ●Rare risk of infection
  • ●Fainting or dizziness during blood draw

Interfering Factors

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

Frequently Asked Questions

What is Cantu syndrome?
Cantu syndrome is a rare genetic disorder caused by mutations in the ABCC9 gene, leading to symptoms like abnormal facial features, cardiac abnormalities, and skeletal issues.
What causes Cantu syndrome?
Cantu syndrome is caused by mutations in the ABCC9 gene, which regulates potassium ion flow in cells. It is inherited in an autosomal dominant manner.
What are the symptoms of Cantu syndrome?
Symptoms include abnormal facial features, cardiac abnormalities (e.g., patent ductus arteriosus), skeletal abnormalities, joint hypermobility, intellectual disability, and low muscle tone.
How is Cantu syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the ABCC9 Gene NGS Genetic Test, which detects mutations in the ABCC9 gene.
What is the ABCC9 Gene Cantu Syndrome NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the entire ABCC9 gene to identify mutations associated with Cantu syndrome, offered at DNA Labs India.
How much does the test cost?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What if the test is positive?
A positive result confirms Cantu syndrome. Genetic counseling is recommended to understand implications, management options, and family planning.
Is genetic counseling recommended?
Yes, genetic counseling is strongly recommended before and after testing to help individuals and families understand the diagnosis and its implications.
Can Cantu syndrome be cured?
There is currently no cure for Cantu syndrome, but treatment focuses on managing symptoms through multidisciplinary care, including cardiac and orthopedic interventions.
Who should get tested for Cantu syndrome?
Testing is recommended for individuals exhibiting symptoms of Cantu syndrome or those with a family history of the disorder, as advised by a healthcare professional.
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.

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✓ 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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