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TENM1 Gene Colobomatous Microphthalmia NGS Genetic Test

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TENM1 Gene Colobomatous Microphthalmia NGS Genetic Test

Short Name: TENM1 NGS Test

Also known as: TENM1 Gene Sequencing, Microphthalmia Coloboma Genetic Test

TENM1 Gene Colobomatous Microphthalmia 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 Reports are generally available in 3 to 4 weeks after the sample is received at the laboratory. In case of complex variants, the report may be delayed.. Free home collection in 300+ cities across India.

NGS 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 detect pathogenic variants in the TENM1 gene associated with colobomatous microphthalmia. It supports diagnosis, helps differentiate from other eye malformations, assists in genetic counselling, and provides information for family planning and recurrence-risk estimation.

Test Code
3807
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One Drop Blood on FTA Card
Result Time
Reports are generally available in 3 to 4 weeks after the sample is received at the laboratory. In case of complex variants, the report may be delayed.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide clinical history and prior eye examination reports. Genetic counselling is advised before the test.

Method: Venipuncture or finger-prick blood spot

Step 2

Laboratory Analysis

A peripheral blood sample is drawn in an EDTA tube, or a finger-prick blood drop is placed on an FTA card.

Step 3

Report Delivery

Sample is sealed and transported to the laboratory. You can resume normal activities immediately.

Timeline: Reports are generally available in 3 to 4 weeks after the sample is received at the laboratory. In case of complex variants, the report may be delayed.

Patient Instructions

1
Before the Test:Patients should provide a detailed clinical history and any prior ocular examination reports. Genetic counselling is recommended before the test to discuss the potential outcomes, limitations, and implications for family members.
2
During the Test:A blood sample (approximately 2-5 ml) is collected in an EDTA vacutainer. For FTA card sampling, a finger-prick blood drop is applied to the card. No sedation is required.
3
After the Test:After collection, the sample is sent to the laboratory for DNA extraction and NGS analysis. Results will be shared with the referring physician and the patient after a clinical review.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the TENM1 gene associated with colobomatous microphthalmia. It supports diagnosis, helps differentiate from other eye malformations, assists in genetic counselling, and provides information for family planning and recurrence-risk estimation.

How to Prepare

  • Use EDTA vacutainer for whole blood collection.
  • For FTA card, apply one drop of blood to each marked circle.
  • Label the sample with patient name, date, and time of collection.
  • Ship at ambient temperature; avoid extreme heat or freezing.

Doctor's Notes

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

"Early genetic diagnosis can guide management and genetic counselling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One Drop Blood on FTA Card
Sample Volume2-5 mL
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or finger-prick blood spot

Sample Stability

Whole blood (EDTA): 24-48 hours at room temperature, up to 3 days at 2-8°C.
FTA card: stable for several months at room temperature in dry conditions.
Sample Rejection Criteria:
  • Hemolyzed, clotted, or frozen blood samples
  • Insufficient sample volume
  • Mismatched labels or missing requisition form

Understanding Your Results

The result of this NGS genetic test will be interpreted by a certified clinical geneticist. Findings are reported as positive, negative, or variant of uncertain significance. The report should be reviewed in the context of clinical presentation and family history.
📊

Positive – pathogenic variant detected

Confirms the molecular diagnosis of TENM1-associated colobomatous microphthalmia. Genetic counselling and targeted family testing are recommended.

📊

Negative – no pathogenic variant detected

A disease-causing variant in the TENM1 coding region was not found. Other genetic or non-genetic causes should be considered.

📊

VUS – variant of uncertain significance

A genetic variant was found but its clinical significance is not yet clear. Further segregation or functional studies may be helpful.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist or clinical geneticist if you have a personal or family history of congenital eye defects such as coloboma, microphthalmia, or anophthalmia, or if your child has been diagnosed with these conditions.

Limitations

  • ⚠This test may not detect large deletions/duplications or deep intronic variants.
  • ⚠Variants of uncertain clinical significance (VUS) may be reported; these do not always confirm disease.
  • ⚠A negative result does not exclude mutations in non-coding regions or other genes causing microphthalmia.
  • ⚠The test is not validated for prenatal diagnosis unless specifically requested.

Risks & Considerations

  • ●Minimal pain or bruising at the venipuncture site
  • ●Rare risk of infection at the injection site
  • ●Finger-prick may cause transient discomfort

Interfering Factors

  • ●Insufficient DNA quantity or quality from sample
  • ●Contamination of sample with another person's DNA
  • ●Previously received bone marrow transplant may affect germline DNA results

Frequently Asked Questions

What is TENM1 Gene Colobomatous Microphthalmia NGS Genetic Test?
It is a next-generation sequencing test that analyzes the TENM1 gene for mutations associated with colobomatous microphthalmia, a rare eye disorder characterized by small, malformed eyes.
What conditions does this test detect?
The test detects pathogenic variants in the TENM1 gene that cause colobomatous microphthalmia, including mutations that lead to ocular coloboma, microphthalmia, and related structural anomalies.
What type of sample is required?
Blood (EDTA), extracted DNA, or a one-drop blood sample on an FTA card. Blood is usually drawn from a vein, while FTA card sampling involves a finger-prick.
Do I need to fast before the test?
No, fasting is not required. The test can be done at any time of the day.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after the sample is received at the laboratory.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India. This includes a comprehensive clinical report and optional raw data files (FASTQ, VCF) upon request.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection in major cities across India for online bookings.
Will I receive raw data files along with the report?
Yes, DNA Labs India shares raw data files (FASTQ and VCF) along with the conclusive clinical report, unlike many other labs. This enhances transparency.
Who can order this test?
The test is typically ordered by an ophthalmologist, clinical geneticist, or a pediatrician when there is a clinical suspicion of colobomatous microphthalmia.
Can this test detect all genetic causes of colobomatous microphthalmia?
No, this test specifically focuses on the TENM1 gene. Other genes may also be involved. If TENM1 is negative, a broader gene panel or whole exome sequencing may be advised.
How will I receive the report?
Reports are delivered online through the patient portal, email, or WhatsApp. You can also discuss results with your referring physician.
What should I do if my result is positive or a variant of uncertain significance?
If a pathogenic variant is found, genetic counselling is strongly recommended to understand implications. For a VUS, further tests or family studies may help clarify the significance. Consult a clinical geneticist.
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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