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SLC35C1 Gene Glycosylation disorde type 2C NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SLC35C1 Gene Glycosylation disorde type 2C NGS Genetic Test

Short Name: SLC35C1 NGS

Also known as: CDG-IIc genetic test, SLC35C1 glycosylation disorder sequencing, Leukocyte adhesion deficiency type II gene test

SLC35C1 Gene Glycosylation disorde type 2C 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 Reports are usually ready in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups🏠 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

This test is performed to confirm a clinical suspicion of SLC35C1-related congenital disorder of glycosylation type IIc. Identification of a causal variant helps in diagnosis, prognostic counselling, recurrence risk assessment, and family planning.

Test Code
4107
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually ready in 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special fasting or medication restriction is required. A genetic counseling session must be completed before the test to document family history and obtain informed consent.

Method: Peripheral blood draw or FTA dried blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood in an EDTA tube; alternatively, a heel or finger prick blood spot can be applied onto an FTA card.

Step 3

Report Delivery

You can resume routine activities immediately. If you chose an FTA card, allow the card to dry at room temperature and store it in a clean envelope.

Timeline: Reports are usually ready in 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. Please provide clinical history and complete genetic counseling before sample collection.
2
During the Test:The sample collection procedure is quick. For blood, a small needle is used to draw blood from a vein. For FTA card, a tiny prick is sufficient.
3
After the Test:You can leave immediately after sample collection. There are no activity restrictions.

About This Test

Who Should Get This Test

This test is performed to confirm a clinical suspicion of SLC35C1-related congenital disorder of glycosylation type IIc. Identification of a causal variant helps in diagnosis, prognostic counselling, recurrence risk assessment, and family planning.

How to Prepare

  • For venipuncture: collect 2-3 mL blood in an EDTA vial.
  • For FTA card: apply one drop of blood onto the card and air-dry.
  • Label the sample with patient name, unique ID, and date.
  • Do not refrigerate FTA card; store at room temperature.
  • Ship in a leak-proof bag and courier to the lab at ambient temperature.

Doctor's Notes

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

"Confirmation of a SLC35C1 variant has direct implications for recurrence risk, prenatal diagnosis and management. A multidisciplinary approach involving clinical genetics and obstetrics is essential."

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 whole blood or 1 drop on FTA card
ContainerEDTA vacutainer / FTA card
Collection MethodPeripheral blood draw or FTA dried blood spot

Sample Stability

EDTA whole blood: 48-72 hours at 2-8°C.
Extracted DNA: stable for 1 week at -20°C.
FTA card: stable for several months at room temperature.
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Insufficient quantity of blood or DNA
  • FTA card not dried completely
  • Improperly labelled or broken container
  • Sample received without clinical history or consent

Understanding Your Results

Sequence variants are classified according to ACMG/AMP guidelines. The presence of two pathogenic variants in SLC35C1 confirms a diagnosis of CDG-IIc. A single heterozygous variant may indicate carrier status if the phenotype is not consistent.
📊

Pathogenic/Likely pathogenic variant in SLC35C1

Supports diagnosis in a symptomatic individual; confirm zygosity and family segregation if needed.

📊

Variant of uncertain significance (VUS)

Additional tests and family studies may be required before final clinical interpretation.

📊

No pathogenic/likely pathogenic variant detected

Reduces but does not completely exclude SLC35C1-related CDG; consider other glycosylation genes or a broader panel.

⚠️ When to Consult a Doctor:

If you receive a positive result or a VUS, schedule a genetic counselling session immediately to understand the result and its implications for treatment, surveillance, family members and reproductive planning.

Limitations

  • ⚠NGS may not reliably detect mosaic variants with very low allele fraction.
  • ⚠Large deletions or duplications may require additional tests such as MLPA.
  • ⚠Non-coding deep intronic variants, repeat expansions, and structural rearrangements are not evaluated by this test.
  • ⚠Inconclusive results may require a complementary test or family segregation analysis.

Risks & Considerations

  • ●Minimal bleeding or hematoma at the venipuncture site
  • ●Psychological implications of knowing a genetic diagnosis
  • ●VUS or inconclusive result may cause uncertainty

Interfering Factors

  • ●Maternal blood contamination
  • ●Clotted or degraded DNA
  • ●Inappropriate storage of EDTA blood at room temperature for more than 72 hours
  • ●PCR inhibition or poor library quality

Compare With Similar Tests

TestSLC35C1 Gene Glycosylation disorde type 2C NGS Genetic Test
ComparisonSLC35C1 Gene Glycosylation disorde type 2C NGS Genetic Test

Frequently Asked Questions

What is SLC35C1 gene glycosylation disorder type 2C?
It is a rare inherited metabolic disorder caused by mutations in the SLC35C1 gene, leading to abnormal glycosylation. Symptoms can include developmental delay, seizures, distinctive facial features, and recurrent infections with raised neutrophil counts. Confirmation relies on molecular testing.
What does the SLC35C1 NGS genetic test do?
It uses next-generation sequencing to read the coding regions and splice junctions of the SLC35C1 gene, identifying disease-causing variants. This helps confirm or exclude CDG-IIc.
Which sample is needed?
Blood in an EDTA tube, extracted DNA, or a dried blood spot on FTA card can be used. Home collection is available.
Is fasting required?
No, fasting is not needed for this genetic test. Clinical history and genetic counseling are required before booking.
How much does the test cost?
The NGS genetic test costs Rs 20,000 inclusive of home sample collection at DNA Labs India. Additional services or confirmation may be discussed with your genetic counselor.
How long will the reports take?
Reports are usually available from 3 to 4 weeks after the sample reaches the laboratory.
What do the report and raw data include?
The final clinical report includes variant classification and recommendations. DNA Labs India provides raw data, FASTQ and VCF files along with the report for transparency.
Who should take this test?
Individuals with features of congenital disorder of glycosylation such as developmental delay, intellectual disability, seizures, or facial dysmorphism, and families with a known SLC35C1 variant.
Is pre-test genetic counseling necessary?
Yes. A genetic counseling session is advised before testing to review family history, draw a pedigree, explain implications of results, and obtain informed consent.
Can this test detect all types of glycosylation disorders?
No, this NGS test targets SLC35C1 specifically. If a broader evaluation is needed, a congenital disorder of glycosylation NGS panel may be considered.
Is SLC35C1 disorder inherited?
It is usually inherited in an autosomal recessive pattern, meaning both copies of SLC35C1 must have a pathogenic variant. Carrier parents have no symptoms.
Are there any risks from the test?
The test itself carries no significant medical risks. For a blood draw, the main risk is mild pain or bruising. The psychological and social implications of a genetic result should be discussed with a genetic counselor.
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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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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