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Nx Gen Sequencing: Microphthalmia / Anophthalmia / Coloboma Spectrum Test

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Nx Gen Sequencing: Microphthalmia / Anophthalmia / Coloboma Spectrum Test

Short Name: MAC Spectrum Genetic Test

Also known as: MAC Spectrum Test, Nx Gen Sequencing for Eye Developmental Disorders

Nx Gen Sequencing: Microphthalmia / Anophthalmia / Coloboma Spectrum Test test available at DNA Labs India for ₹28,665. Uses NGS, Sanger sequencing on Whole blood samples. Results in Reports are typically available within 45 working days after sample receipt.. Free home collection in 300+ cities across India.

Genetic Test🏠 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 this test is to determine the genetic basis of Microphthalmia, Anophthalmia, and Coloboma Spectrum disorders by detecting mutations in associated genes, aiding in diagnosis, management, and family planning.

Test Code
1348
Price
₹28,665
Sample Type
Whole blood
Result Time
Reports are typically available within 45 working days after sample receipt.
Fasting Required
No
Method
NGS, Sanger sequencing
Step 1

Sample Collection

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. Ensure no recent blood transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

Sample collection via venipuncture under aseptic conditions by trained personnel.

Step 3

Report Delivery

Ship sample refrigerated immediately. Do not freeze. Maintain cold chain.

Timeline: Reports are typically available within 45 working days after sample receipt.

Patient Instructions

1
Before the Test:Obtain and complete the mandatory consent form. No fasting required.
2
During the Test:Blood sample will be drawn by a healthcare professional using standard venipuncture techniques.
3
After the Test:Apply pressure to the puncture site to prevent bruising. Resume normal activities.

About This Test

Who Should Get This Test

The purpose of this test is to determine the genetic basis of Microphthalmia, Anophthalmia, and Coloboma Spectrum disorders by detecting mutations in associated genes, aiding in diagnosis, management, and family planning.

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 and submitted with sample

Doctor's Notes

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

"As an ophthalmologist, I recommend Nx Gen Sequencing for patients presenting with microphthalmia, anophthalmia, or coloboma. Early genetic diagnosis helps guide treatment strategies, surgical planning, and genetic counseling for affected families, ultimately improving patient outcomes and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume10 mL (5 mL min.)
ContainerLavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature6 hours
Refrigerator (2-8°C)72 hours
FrozenNot applicable
Sample Rejection Criteria:
  • Missing or incomplete consent form
  • Improper sample container or volume
  • Sample hemolyzed, clotted, or contaminated
  • Sample not shipped refrigerated as instructed

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic genetic variants in the analyzed genes. A positive result indicates a genetic mutation associated with the MAC spectrum, while a negative result suggests no known variants were detected, but does not completely rule out genetic causes.
📊

Pathogenic variant detected

Confirms genetic etiology for MAC spectrum; aids in diagnosis, management, and genetic counseling.

📊

No pathogenic variant detected

Genetic cause may not be identified with this test; consider other diagnostic approaches.

📊

Variant of uncertain significance

Clinical correlation and family studies may be needed for interpretation.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibits symptoms such as small eyes, absent eyes, eye structural defects, or unexplained vision problems, especially with a family history of similar conditions.

Limitations

  • ⚠Not all genetic mutations associated with MAC spectrum may be detected
  • ⚠Variants of uncertain significance may be identified
  • ⚠Test does not rule out other causes of eye disorders
  • ⚠Results may require confirmation with additional testing

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Rare risk of infection or dizziness
  • ●Minimal risk associated with genetic testing, such as psychological impact of results

Interfering Factors

  • ●Poor sample quality due to hemolysis or contamination
  • ●Inadequate sample volume
  • ●Failure to submit mandatory consent form
  • ●Recent blood transfusion may affect DNA analysis

Frequently Asked Questions

What is the Nx Gen Sequencing test for MAC spectrum?
It is a genetic test that uses next-generation sequencing to analyze multiple genes associated with Microphthalmia, Anophthalmia, and Coloboma, helping diagnose these developmental eye disorders.
Who should consider this test?
Individuals with symptoms such as small or absent eyes, eye defects, visual impairment, or a family history of MAC spectrum should consider this test for accurate diagnosis.
How is the test performed?
The test is performed on a whole blood sample. DNA is extracted and analyzed using NGS and Sanger sequencing technologies to detect genetic mutations.
What is the cost of the test?
The test costs INR 28,665, which includes sample collection, analysis, and report generation. Home collection is available at no extra charge.
Is fasting required before the test?
No, fasting is not required. However, a duly filled consent form is mandatory before sample collection.
What are the risks associated with the test?
The risks are minimal, similar to a routine blood draw, such as slight pain or bruising. Genetic testing may have psychological implications based on results.
How long does it take to get the results?
Results are typically available within 45 working days after the sample is received at the laboratory.
What does a positive result mean?
A positive result indicates a genetic mutation linked to the MAC spectrum, confirming a genetic cause and aiding in management and family planning.
Can this test detect all genetic mutations?
The test analyzes many genes but may not detect all possible mutations. Some variants of uncertain significance may be found, requiring further evaluation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India for convenience.
What should I do before the test?
Complete the mandatory Whole Exome Sequencing Consent Form (Form 37) and ensure the sample is collected and shipped as instructed.
How should I interpret the results?
Results should be interpreted by a healthcare professional or genetic counselor who can explain the implications for diagnosis, treatment, 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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