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SLC35A2 Gene Glycosylation disorder type 2M NGS Genetic Test

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SLC35A2 Gene Glycosylation disorder type 2M NGS Genetic Test

Short Name: SLC35A2 NGS Test

Also known as: Congenital Disorder of Glycosylation Type 2M, CDG IIm

SLC35A2 Gene Glycosylation disorder type 2M NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)🏠 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 identify mutations in the SLC35A2 gene for diagnosis of Glycosylation Disorder Type 2M, guiding treatment and management strategies.

Test Code
2053
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counselling session and review of clinical history and family pedigree.

Method: Venipuncture or Cheek Swab

Step 2

Laboratory Analysis

Blood draw via venipuncture or cheek swab collection per standard protocols.

Step 3

Report Delivery

Sample labeled and transported to laboratory for NGS analysis.

Timeline: Results are typically available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Schedule a genetic counselling appointment to discuss test necessity, process, and implications.
2
During the Test:Sample collection will be performed by a trained professional at home or a clinic.
3
After the Test:Await results and follow up with your physician or geneticist for interpretation and next steps.

About This Test

Who Should Get This Test

To identify mutations in the SLC35A2 gene for diagnosis of Glycosylation Disorder Type 2M, guiding treatment and management strategies.

How to Prepare

  • For cheek swab, avoid eating or drinking for 30 minutes prior.
  • For blood sample, no special preparation required.
  • Ensure proper labeling of samples.

Doctor's Notes

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

"This NGS test is essential for accurate diagnosis of SLC35A2-related glycosylation disorders, aiding in personalized management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Cheek Swab

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable for long-term storage at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improper container or labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC35A2 gene, which are associated with Glycosylation Disorder Type 2M.
Pathogenic variant detected: Confirms diagnosis of the disorder.
Variant of uncertain significance: Further testing or clinical correlation needed.
No variant detected: Disorder is less likely, but clinical evaluation should continue.
⚠️ When to Consult a Doctor:

If symptoms such as developmental delay, seizures, or other signs of glycosylation disorder are present, consult a geneticist or specialist.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires expert genetic interpretation
  • ⚠False negatives possible in rare cases

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Minimal infection risk
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Incorrect sample handling

Frequently Asked Questions

What is the SLC35A2 Gene Glycosylation Disorder Type 2M NGS Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the SLC35A2 gene, which causes a rare disorder affecting protein glycosylation.
What is the cost of this test in India?
The test costs INR 20000, with free home sample collection available across India.
How is the test performed?
A blood sample or cheek swab is collected and analyzed using NGS technology to sequence the SLC35A2 gene.
Who should consider this test?
Individuals with symptoms like developmental delay, seizures, or suspected glycosylation disorders, and those with a family history.
What are the symptoms that indicate the need for this test?
Symptoms include developmental delay, intellectual disability, seizures, microcephaly, abnormal muscle tone, and vision/hearing problems.
How accurate is the NGS genetic test?
NGS provides high accuracy in detecting genetic variants, but interpretation requires expertise to confirm pathogenicity.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but the test itself is safe.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in various cities across India.
Does insurance cover this test?
Coverage depends on the insurance provider and policy; it is often not covered, so check with your insurer.
What should I do before the test?
Undergo genetic counselling and provide clinical history; no fasting is required.
How are the results interpreted and what do they mean?
A geneticist will interpret results: pathogenic variants confirm the disorder, while negative results may require further evaluation.
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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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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