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CHM Gene Choroideremia NGS Genetic Test

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CHM Gene Choroideremia NGS Genetic Test

Short Name: CHM NGS Test

Also known as: CHM, Choroideremia

CHM Gene Choroideremia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood, 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 TestMalePediatric and Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the CHM Gene Choroideremia NGS Genetic Test is to identify mutations in the CHM gene for accurate diagnosis of choroideremia, determine disease prognosis, facilitate genetic counseling, and support family planning decisions.

Test Code
5713
Price
₹20,000
Sample Type
Blood, 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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with choroideremia.

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or use of extracted DNA or FTA card.

Step 3

Report Delivery

Sample is processed for NGS analysis; genetic counseling is recommended post-test.

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 or DNA extraction is performed.
3
After the Test:Results are analyzed and reported; follow-up genetic counseling is advised.

About This Test

Who Should Get This Test

The purpose of the CHM Gene Choroideremia NGS Genetic Test is to identify mutations in the CHM gene for accurate diagnosis of choroideremia, determine disease prognosis, facilitate genetic counseling, and support family planning decisions.

How to Prepare

  • Provide clinical history.
  • Attend genetic counseling session.
  • Sample can be blood, extracted DNA, or FTA card.

Doctor's Notes

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

"Early genetic testing for CHM can guide management and family planning, helping to identify carriers and at-risk individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CHM gene. A positive result confirms choroideremia diagnosis, while a negative result may require further testing.
📊

Positive for CHM mutation

Confirms diagnosis of choroideremia; genetic counseling recommended for family planning.

📊

Negative for CHM mutation

No pathogenic variant detected; clinical correlation and additional testing may be needed.

📊

Variant of uncertain significance

Further analysis and family studies required for interpretation.

⚠️ When to Consult a Doctor:

Consult a doctor if experiencing symptoms like night blindness or vision loss, or if there is a family history of choroideremia. After testing, consult for result interpretation and management.

Limitations

  • ⚠May not detect all genetic variants or deep intronic mutations.
  • ⚠Results require interpretation by a genetic counselor or specialist.

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection.

Frequently Asked Questions

What is choroideremia?
Choroideremia is a rare X-linked genetic disorder that causes progressive vision loss due to mutations in the CHM gene.
What causes choroideremia?
It is caused by mutations in the CHM gene, which provides instructions for making Rab escort protein 1 (REP1), essential for retinal cell function.
What are the symptoms of choroideremia?
Symptoms include night blindness in childhood, loss of peripheral vision, and eventual central vision loss, potentially leading to blindness.
How is choroideremia diagnosed?
Diagnosis involves comprehensive eye exams and genetic testing, such as the CHM Gene Choroideremia NGS Genetic Test.
What is the CHM Gene Choroideremia NGS Genetic Test?
It is a Next Generation Sequencing test that identifies mutations in the CHM gene for accurate diagnosis and genetic counseling.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What does a positive test result mean?
A positive result confirms a diagnosis of choroideremia and helps in genetic counseling and family planning.
Can choroideremia be treated?
There is no cure, but early diagnosis can help manage symptoms and guide supportive care. Research into gene therapy is ongoing.
How can genetic testing help in family planning?
Genetic testing identifies carriers and at-risk individuals, allowing for informed decisions about prenatal testing 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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