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SLC35A1 Gene Glycosylation disorder type 2F NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SLC35A1 Gene Glycosylation disorder type 2F NGS Genetic Test

Short Name: SLC35A1 CDG 2F NGS

Also known as: CDG Type 2F NGS Test, SLC35A1 Gene NGS Test, Congenital Disorder of Glycosylation Type 2F Genetic Test

SLC35A1 Gene Glycosylation disorder type 2F 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

The primary purpose is to detect disease-causing variants in the SLC35A1 gene to establish a molecular diagnosis of congenital disorder of glycosylation type 2F. It also supports genetic counselling, recurrence risk estimation, and informed management planning.

Test Code
4115
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

No fasting or special preparation is required. Please carry any prior clinical notes, imaging, and genetic counselling referral.

Method: Venipuncture / FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small volume of blood or a FTA card blood spot. The procedure is quick and minimally painful.

Step 3

Report Delivery

No restrictions after sample collection. You may resume normal activities immediately.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No special preparation is required. A referral and clinical history from a specialist are helpful for accurate interpretation.
2
During the Test:A blood sample or FTA card blood spot will be collected. The sample is then sent to the laboratory for NGS analysis.
3
After the Test:No recovery time is needed. The report will be shared after analysis is completed, typically in 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose is to detect disease-causing variants in the SLC35A1 gene to establish a molecular diagnosis of congenital disorder of glycosylation type 2F. It also supports genetic counselling, recurrence risk estimation, and informed management planning.

How to Prepare

  • No fasting is required.
  • Use an EDTA vacutainer for blood collection if applicable.
  • If using FTA card, allow the spot to air dry completely and do not freeze.
  • Label the sample with the patient's full name, date of birth, and collection date.

Doctor's Notes

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

"Genetic testing plays a critical role in diagnosing inherited glycosylation disorders. Early confirmation of the underlying variant enables appropriate genetic counselling, recurrence-risk assessment and care planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL whole blood or 1 FTA blood spot
ContainerEDTA vacutainer / FTA card
Collection MethodVenipuncture / FTA card blood spot

Sample Stability

EDTA blood: 24-48 hours at 2-8°C or room temperature
Extracted DNA: stable for months at -20°C
FTA card: stable for years at room temperature when kept dry
Sample Rejection Criteria:
  • Clotted or hemolyzed blood
  • Unlabeled or mislabeled sample
  • Sample received after prolonged transit without proper storage
  • Incomplete clinical history or missing referral

Understanding Your Results

The clinical report will describe whether a pathogenic, likely pathogenic, or variant of uncertain significance is identified in the SLC35A1 gene. Interpretation is performed in the context of the clinical presentation and family history.
📊

No pathogenic variant detected

No disease-causing SLC35A1 variant was identified in this analysis

Action: Consider evaluation of other glycosylation genes or alternative causes of the clinical phenotype

📊

Pathogenic variant detected

Confirms the molecular diagnosis of SLC35A1-related congenital disorder of glycosylation type 2F

Action: Proceed with genetic counselling, family screening, and management planning

📊

Likely pathogenic variant detected

Very likely disease-causing and supports the clinical diagnosis with appropriate correlation

Action: Clinical correlation and family studies may help confirm significance

📊

Variant of uncertain significance (VUS)

The clinical significance is unclear at this time

Action: Additional familial segregation studies, clinical correlation, or functional studies may be required

⚠️ When to Consult a Doctor:

If you or your child have unexplained developmental delay, seizures, movement disorder, abnormal brain imaging, facial dysmorphism, or a family history of a congenital disorder of glycosylation, consult a neurologist or genetic specialist.

Limitations

  • ⚠NGS may not detect deep intronic variants, large structural rearrangements, or repeat expansions
  • ⚠A negative result does not completely exclude SLC35A1-related disorder if clinical suspicion remains high
  • ⚠Variants of uncertain significance may require additional family segregation studies or functional analysis

Risks & Considerations

  • ●No serious risks are associated with blood collection
  • ●Mild pain, bruising, or bleeding at the needle site
  • ●Rare risk of infection or hematoma

Interfering Factors

  • ●Poor-quality DNA due to improper storage or transport
  • ●Maternal cell contamination in certain sample types
  • ●Gene coverage gaps in GC-rich or repetitive regions
  • ●Large exonic deletions or duplications may not be detected by standard NGS

Compare With Similar Tests

TestSLC35A1 Gene Glycosylation disorder type 2F NGS Genetic TestSLC35A1 Single-Gene NGS TestCongenital Disorders of Glycosylation NGS PanelWhole Exome Sequencing
ComparisonSLC35A1 Gene Glycosylation disorder type 2F NGS Genetic Test

Frequently Asked Questions

What is SLC35A1 gene glycosylation disorder type 2F?
It is a rare congenital disorder of glycosylation caused by mutations in the SLC35A1 gene, which affect sialic acid transport and glycoprotein synthesis. This can lead to neurological, facial, and multisystem symptoms.
What are the common symptoms of CDG type 2F?
Reported symptoms include developmental delay, intellectual disability, seizures, abnormal muscle tone, abnormal eye movements, brain abnormalities, facial dysmorphism, and sometimes cardiac or haematological findings.
How is SLC35A1 gene glycosylation disorder type 2F diagnosed?
Diagnosis is confirmed through genetic testing, usually NGS of the SLC35A1 gene, after clinical assessment and appropriate biochemical investigations such as transferrin isoform analysis.
What is NGS technology?
NGS stands for next-generation sequencing, a method that sequences large amounts of DNA in parallel to identify mutations in the gene or genes of interest.
Why is NGS used for this genetic test?
NGS provides fast, accurate, and high-throughput sequencing with high sensitivity for detecting point mutations and small insertions or deletions in the SLC35A1 gene.
What sample is required for the SLC35A1 NGS genetic test?
The acceptable samples are blood, extracted DNA, or one drop of blood on an FTA card. For blood collection, an EDTA vacutainer is commonly used.
How long does it take to get the test report?
The clinical report is typically available within 3 to 4 weeks after the laboratory receives the sample.
What is the cost of the SLC35A1 gene glycosylation disorder type 2F NGS genetic test in India?
At DNA Labs India, the test is available at a special discounted price of INR 20,000, with free home sample collection in selected cities.
Can this test detect all glycosylation disorders?
No, this is a single-gene NGS test that specifically analyses the SLC35A1 gene. A CDG NGS panel or whole exome sequencing may be needed to evaluate other glycosylation-related genes.
What is a variant of uncertain significance (VUS)?
A VUS is a genetic change whose impact on protein function is not yet clear. It may require additional family studies and clinical correlation to determine if it is disease-causing.
Does DNA Labs India provide raw data files with the clinical report?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report for transparency and possible secondary analysis when requested.
Who should consider this genetic test?
Individuals with unexplained developmental delay, seizures, intellectual disability, abnormal muscle tone, or other features suggestive of a congenital disorder of glycosylation should consider this test after clinical 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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