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DNA Labs India

Nx Gen Sequencing: Leber Congenital Amaurosis Test

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Nx Gen Sequencing: Leber Congenital Amaurosis Test

Short Name: LCA Genetic Test

Also known as: LCA Genetic Test, NxGen LCA Sequencing

Nx Gen Sequencing: Leber Congenital Amaurosis Test test available at DNA Labs India for ₹28,665. Uses NGS, Sanger sequencing on Whole blood samples. Results in 45 Working days. Free home collection in 300+ cities across India.

Genetic Sequencing TestInfants and Children🏠 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 Nx Gen Sequencing test for Leber Congenital Amaurosis is to identify specific genetic mutations associated with LCA, enabling accurate diagnosis, personalized treatment planning, genetic counseling, and informed family planning decisions. This test helps confirm LCA in symptomatic infants and children, differentiate it from other vision disorders, and guide management strategies.

Test Code
1344
Price
₹28,665
Sample Type
Whole blood
Result Time
45 Working days
Fasting Required
No
Method
NGS, Sanger sequencing
Step 1

Sample Collection

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Method: Blood draw

Step 2

Laboratory Analysis

A small blood sample is drawn from a vein using standard phlebotomy techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding; avoid heavy lifting with the arm for a few hours.

Timeline: 45 Working days

Patient Instructions

1
Before the Test:Obtain and complete the Whole Exome Sequencing Consent Form (Form 37). No fasting is required.
2
During the Test:The test involves a blood draw, which is a routine procedure with minimal discomfort.
3
After the Test:Results will be available in 45 working days via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the Nx Gen Sequencing test for Leber Congenital Amaurosis is to identify specific genetic mutations associated with LCA, enabling accurate diagnosis, personalized treatment planning, genetic counseling, and informed family planning decisions. This test helps confirm LCA in symptomatic infants and children, differentiate it from other vision disorders, and guide management strategies.

How to Prepare

  • Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes
  • Ship refrigerated. DO NOT FREEZE.
  • Ensure consent form is completed prior to collection

Doctor's Notes

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

"Genetic testing like NxGen Sequencing is vital for early diagnosis of LCA, enabling personalized treatment plans and family counseling for inherited eye disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume10 mL (5 mL min.)
Container2 Lavender Top (EDTA) tubes
Collection MethodBlood draw

Sample Stability

Room Temperature6 hours
Refrigerator72 hours
FrozenNot applicable

Understanding Your Results

Results from the Nx Gen Sequencing test for Leber Congenital Amaurosis will indicate the presence or absence of pathogenic mutations in the tested genes.
📊

Positive for pathogenic mutations

Confirms genetic diagnosis of LCA; genetic counseling and tailored management recommended.

📊

Negative for pathogenic mutations

LCA unlikely based on tested genes; consider other diagnoses or additional testing.

📊

Variant of uncertain significance (VUS)

Further clinical correlation and family studies may be needed; consult a geneticist.

⚠️ When to Consult a Doctor:

Consult a doctor if your child exhibits symptoms of LCA such as poor vision, nystagmus, or photophobia, or if there is a family history of genetic eye disorders. Prompt evaluation is essential for early diagnosis and intervention.

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection or fainting

Frequently Asked Questions

What is Nx Gen Sequencing for Leber Congenital Amaurosis?
It is a next-generation DNA sequencing test that identifies genetic mutations causing Leber Congenital Amaurosis (LCA), a rare eye disorder leading to severe vision loss in infants.
How is the test performed?
The test requires a small blood sample drawn from a vein. The DNA is sequenced using NGS and Sanger sequencing to detect mutations in genes associated with LCA.
What is the cost of the Nx Gen Sequencing LCA test in India?
The test cost is INR 28,665, which includes the test, counseling, and result interpretation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What are the symptoms of Leber Congenital Amaurosis?
Symptoms include poor vision in low light, nystagmus (involuntary eye movements), absent pupillary reflexes, photophobia, and slow visual development in early childhood.
How long does it take to get results?
Results are typically available within 45 working days after sample collection.
Is the test covered by insurance?
Coverage depends on your insurance plan. It is advisable to check with your provider as genetic tests may not be routinely covered.
What sample is required for the test?
10 mL (minimum 5 mL) of whole blood in two Lavender Top (EDTA) tubes, shipped refrigerated without freezing.
Can adults take this test for LCA diagnosis?
While LCA primarily affects infants, the test can be used for individuals of any age if genetic diagnosis is indicated.
What genes are tested in this panel?
The test analyzes genes such as AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1.
How accurate is the Nx Gen Sequencing test?
The test uses advanced sequencing technologies (NGS and Sanger sequencing) to provide accurate detection of pathogenic mutations, with high sensitivity and specificity.
What should I do if the test result is positive?
A positive result confirms genetic diagnosis of LCA. Consult your doctor or a geneticist for personalized treatment, management, and family counseling.
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

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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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