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MITF Gene Tietz albinism-deafness syndrome NGS Genetic Test

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MITF Gene Tietz albinism-deafness syndrome NGS Genetic Test

Short Name: MITF Gene Tietz Syndrome Test

Also known as: Tietz Syndrome, MITF-related Albinism-Deafness Syndrome

MITF Gene Tietz albinism-deafness syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

To diagnose Tietz Albinism-Deafness Syndrome by detecting pathogenic mutations in the MITF gene using NGS technology, enabling accurate medical management and genetic counseling.

Test Code
4792
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and family pedigree. Genetic counseling session is recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using aseptic technique.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as instructed.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review. No fasting required.
2
During the Test:Blood sample is collected and processed using NGS technology in the lab.
3
After the Test:Results are analyzed, and a clinical report is generated. Genetic counseling is advised for interpretation.

About This Test

Who Should Get This Test

To diagnose Tietz Albinism-Deafness Syndrome by detecting pathogenic mutations in the MITF gene using NGS technology, enabling accurate medical management and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details
  • Transport sample to lab within specified stability period

Doctor's Notes

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

"This test is essential for accurate diagnosis and genetic counseling in families affected by Tietz syndrome, guiding management for hearing and visual impairments."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood (if applicable)
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: Stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type or container
  • Missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MITF gene. Positive results confirm Tietz syndrome, while negative results may require further testing if symptoms persist.
📊

Pathogenic variant detected

Confirms diagnosis of Tietz Albinism-Deafness Syndrome. Genetic counseling and management planning recommended.

📊

No pathogenic variant detected

Tietz syndrome unlikely based on this gene. Consider other genetic or non-genetic causes.

📊

Variant of uncertain significance

Further testing or family studies may be needed. Consult a geneticist.

⚠️ When to Consult a Doctor:

If symptoms such as albinism, hearing loss, or eye abnormalities are present, or if there is a family history of Tietz syndrome. Consult a geneticist or ENT specialist for evaluation.

Limitations

  • ⚠May not detect all possible mutations in the MITF gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Very low risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Incorrect sample storage or handling

Compare With Similar Tests

TestMITF Gene Tietz albinism-deafness syndrome NGS Genetic TestTYR Gene Albinism TestComprehensive Hearing Loss Panel
ComparisonMITF Gene Tietz albinism-deafness syndrome NGS Genetic TestFocuses on oculocutaneous albinism type 1, not specifically Tietz syndrome.Includes multiple genes for hearing loss, but may not cover MITF specifically.

Frequently Asked Questions

What is Tietz Albinism-Deafness Syndrome?
Tietz syndrome is a rare genetic disorder caused by mutations in the MITF gene, leading to albinism (reduced pigmentation in skin, hair, and eyes) and hearing loss.
What causes Tietz syndrome?
It is caused by mutations in the MITF gene, which is involved in the development of melanocytes (pigment-producing cells) and inner ear cells.
How is the MITF gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the MITF gene from a blood or DNA sample, detecting mutations associated with the syndrome.
What are the symptoms of Tietz syndrome?
Common symptoms include pale skin, light-colored hair and eyes, hearing loss, nystagmus (involuntary eye movements), photophobia (light sensitivity), and reduced visual acuity.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort or bruising, but it is generally not painful.
How accurate is the NGS genetic test?
The NGS test is highly accurate for detecting mutations in the MITF gene, providing a definitive diagnosis when performed by accredited labs like DNA Labs India.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection, analysis, and report delivery.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from the date of sample receipt.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What should I do before the test?
Provide a detailed clinical history and family pedigree. A genetic counseling session is recommended before testing.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible if a familial mutation is known, but it requires specialized procedures and genetic counseling.
What are the treatment options after diagnosis?
Management includes hearing aids, visual aids, sun protection for skin, and regular monitoring. Genetic counseling helps in family planning and understanding risks.
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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