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CHD7 Gene CHARGE syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CHD7 Gene CHARGE syndrome NGS Genetic Test

Short Name: CHD7 CHARGE NGS Test

Also known as: CHARGE Syndrome Genetic Test, CHD7 Mutation Analysis, CHD7 Gene Sequencing

CHD7 Gene CHARGE syndrome 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. Free home collection in 300+ cities across India.

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

The purpose of this test is to diagnose CHARGE syndrome by detecting pathogenic variants in the CHD7 gene, enabling early intervention, genetic counseling, and informed family planning.

Test Code
5712
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 (Next Generation Sequencing)
Step 1

Sample Collection

No special preparation is required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree.
2
During the Test:DNA extraction and NGS sequencing performed in the laboratory.
3
After the Test:Results reviewed by a geneticist and reported with recommendations.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose CHARGE syndrome by detecting pathogenic variants in the CHD7 gene, enabling early intervention, genetic counseling, and informed family planning.

How to Prepare

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

Doctor's Notes

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

"Genetic testing for CHARGE syndrome is essential for early diagnosis and management. If symptoms are present, consult a specialist for personalized care and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: Stable for 24 hours at room temperature
Extracted DNA: Stable for years if stored properly at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CHD7 gene. Interpretation should be done by a qualified geneticist.
📊

Positive: Pathogenic variant detected

Consistent with CHARGE syndrome diagnosis. Genetic counseling recommended.

📊

Negative: No pathogenic variants detected

CHARGE syndrome unlikely, but clinical correlation is advised.

📊

Variant of Uncertain Significance (VUS)

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms of CHARGE syndrome are present, for family planning advice, or if a variant of uncertain significance is identified.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions/duplications)
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of test results
  • ●Potential for uncertain findings requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestCHD7 Gene CHARGE syndrome NGS Genetic TestWhole Exome SequencingCHARGE Syndrome PanelKaryotype AnalysisFISH for 22q11.2 Deletion
ComparisonCHD7 Gene CHARGE syndrome NGS Genetic Test

Frequently Asked Questions

What is CHARGE syndrome?
CHARGE syndrome is a genetic disorder characterized by Coloboma, Heart defects, Atresia choanae, Retardation of growth, Genital abnormalities, and Ear abnormalities.
What does the CHD7 gene do?
The CHD7 gene produces a protein essential for normal development of various organs and tissues. Mutations can lead to CHARGE syndrome.
How is the test performed?
The test uses Next Generation Sequencing (NGS) to analyze the DNA sequence of the CHD7 gene for mutations.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required?
No, fasting is not required for this test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is offered across India for online bookings.
What if the test result is positive?
A positive result indicates a pathogenic variant in the CHD7 gene, consistent with CHARGE syndrome. Genetic counseling is recommended.
Can this test detect all mutations?
NGS is highly accurate but may not detect all types of mutations, such as large deletions or duplications.
Who should consider this test?
Individuals with symptoms of CHARGE syndrome or a family history of the condition.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling to help understand test results and implications.
What is the cost of the test?
The cost is INR 20,000, with free home collection included.
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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