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TMEM165 Gene Glycosylation disorder type 2K NGS Genetic Test

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TMEM165 Gene Glycosylation disorder type 2K NGS Genetic Test

TMEM165 Gene Glycosylation disorder type 2K 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. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic Test is to diagnose this rare genetic disorder by identifying mutations in the TMEM165 gene, enabling early intervention and management.

Test Code
2057
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Glycosylation disorder type 2K.

Method: Blood Draw

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and draw a pedigree chart.
2
During the Test:Blood sample collection for DNA extraction and NGS analysis.
3
After the Test:Results will be available in 3 to 4 weeks, with genetic counseling recommended for interpretation.

About This Test

Who Should Get This Test

The purpose of the TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic Test is to diagnose this rare genetic disorder by identifying mutations in the TMEM165 gene, enabling early intervention and management.

How to Prepare

  • Collect blood sample using standard venipuncture technique
  • Store sample in appropriate container and transport to lab

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw

Understanding Your Results

Results from the TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic Test are interpreted based on the presence or absence of pathogenic variants in the TMEM165 gene.
📊

No pathogenic variants detected in the TMEM165 gene, indicating low risk for this disorder based on genetic analysis.

Result type: Normal

📊

Pathogenic variants detected in the TMEM165 gene, confirming diagnosis of Glycosylation disorder type 2K. Genetic counseling and further medical evaluation recommended.

Result type: Abnormal

⚠️ When to Consult a Doctor:

Consult a doctor if you or a loved one experience symptoms such as delayed growth, seizures, muscle weakness, or have a family history of glycosylation disorders.

Limitations

  • Test may not detect all genetic variants
  • Results require interpretation by a qualified geneticist

Risks & Considerations

  • Minimal risks associated with blood draw, such as bruising or infection
  • Genetic testing may have psychological implications

Frequently Asked Questions

What is TMEM165 Gene Glycosylation Disorder Type 2K?
It is a rare genetic disorder that affects glycosylation, the process of adding sugar chains to proteins, leading to various health issues.
What are the common symptoms of this disorder?
Symptoms include delayed growth, abnormal facial features, seizures, muscle weakness, intellectual disability, liver and kidney abnormalities, and recurrent infections.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze DNA from a blood sample for mutations in the TMEM165 gene.
What is the cost of the TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic Test?
The cost is INR 20000 at DNA Labs India, with free home sample collection available in many cities across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities including Mumbai, Delhi, Bangalore, and others.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider getting this test?
Individuals with symptoms of glycosylation disorders or a family history of the condition should consider testing, after genetic counseling.
What do the test results mean?
Normal results indicate no pathogenic variants, while abnormal results confirm the disorder and require further medical consultation.
Is genetic counseling recommended before testing?
Yes, genetic counseling is recommended to draw a pedigree chart and understand the implications of the test.
Are there any risks associated with the test?
The main risks are minimal, such as bruising from blood draw; genetic testing may also have psychological impacts, so counseling is advised.
What technology does DNA Labs India use for this genetic test?
DNA Labs India uses advanced Next-Generation Sequencing (NGS) technology to ensure high accuracy and comprehensive analysis of the TMEM165 gene.
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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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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