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RFT1 Gene Glycosylation disorder type 1N NGS Genetic Test

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RFT1 Gene Glycosylation disorder type 1N NGS Genetic Test

Short Name: RFT1 Gene Glycosylation Disorder Test

Also known as: Congenital Disorder of Glycosylation Type 1N, RFT1-CDG

RFT1 Gene Glycosylation disorder type 1N 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.

Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose RFT1 Gene Glycosylation Disorder Type 1N by detecting pathogenic mutations in the RFT1 gene using Next-Generation Sequencing (NGS) technology, aiding in confirmation of the disorder and informing clinical management.

Test Code
2045
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 is required. A genetic counseling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1N is recommended.

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 and clinical history assessment are advised before testing.
2
During the Test:A blood sample is collected via venipuncture for DNA extraction and analysis.
3
After the Test:Results are delivered within 3 to 4 weeks. Follow-up with a genetic counselor or physician is recommended.

About This Test

Who Should Get This Test

To diagnose RFT1 Gene Glycosylation Disorder Type 1N by detecting pathogenic mutations in the RFT1 gene using Next-Generation Sequencing (NGS) technology, aiding in confirmation of the disorder and informing clinical management.

How to Prepare

  • Ensure proper blood sample collection using sterile techniques.
  • Label samples correctly with patient details.
  • Transport samples as per guidelines to maintain integrity.

Doctor's Notes

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

"Genetic testing is crucial for early diagnosis and management of RFT1 Gene Glycosylation Disorder, aiding in personalized care and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of mutations in the RFT1 gene associated with Glycosylation Disorder Type 1N. A positive result confirms diagnosis, while a negative result may not rule out other genetic causes.
Positive for pathogenic variants: Confirms RFT1 Gene Glycosylation Disorder Type 1N.
Negative for pathogenic variants: Suggests no mutations detected in the RFT1 gene.
Variants of uncertain significance: Require further clinical correlation and genetic counseling.
⚠️ When to Consult a Doctor:

If symptoms such as developmental delays, seizures, or abnormal facial features are present, or if there is a family history of glycosylation disorders, consult a healthcare professional for evaluation and possible genetic testing.

Risks & Considerations

  • Minor bruising at the injection site
  • Rare risk of infection

Frequently Asked Questions

What is RFT1 Gene Glycosylation Disorder Type 1N?
It is a rare genetic disorder that affects the glycosylation process, where sugars are added to proteins or lipids, leading to various symptoms due to mutations in the RFT1 gene.
What are the common symptoms of this disorder?
Symptoms include abnormal facial features, developmental delays, seizures, intellectual disability, abnormal muscle tone, organ dysfunction, and growth delays.
How is RFT1 Gene Glycosylation Disorder diagnosed?
Diagnosis involves physical exams, blood/urine tests for glycosylation abnormalities, and genetic testing such as NGS to confirm mutations in the RFT1 gene.
What is the cost of the NGS Genetic Test for this disorder?
The NGS Genetic Test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the RFT1 Gene Glycosylation Disorder NGS Genetic Test when booked online.
How long does it take to receive the test reports?
Reports are typically delivered within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is the NGS Genetic Test accurate for detecting mutations?
Yes, Next-Generation Sequencing (NGS) technology provides high accuracy for detecting mutations in the RFT1 gene associated with the disorder.
Who should consider getting this genetic test?
Individuals showing symptoms of glycosylation disorders or those with a family history of the condition should consider testing after genetic counseling.
Is genetic counseling required before the test?
A genetic counseling session is recommended to discuss the test implications, draw a pedigree chart, and understand the results.
Are there any risks associated with the blood draw for this test?
Risks are minimal and may include minor bruising or rare infection at the injection site.
How can I book the RFT1 Gene Glycosylation Disorder test?
You can book the test online through DNA Labs India's website or contact their customer service for assistance.
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 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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