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SLC35D1 Gene Schneckenbecken dysplasia NGS Genetic Test

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SLC35D1 Gene Schneckenbecken dysplasia NGS Genetic Test

Short Name: SLC35D1 Gene Test

Also known as: Schneckenbecken dysplasia, SLC35D1-related dysplasia, Snail-like pelvis dysplasia

SLC35D1 Gene Schneckenbecken dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 Test🏠 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 purpose of the SLC35D1 Gene Schneckenbecken Dysplasia NGS Genetic Test is to confirm a diagnosis of Schneckenbecken dysplasia by detecting mutations in the SLC35D1 gene. This helps in differentiating it from other skeletal dysplasias, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

Test Code
2803
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 (Next-Generation Sequencing)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.

Method: Blood draw or FTA card collection

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist, or a drop of blood can be collected on an FTA card for DNA extraction.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss symptoms, family history, and test implications. No fasting is required.
2
During the Test:A blood sample is collected, and DNA is extracted for NGS analysis. The process is non-invasive and quick.
3
After the Test:Wait for 3-4 weeks for results. Follow up with your healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the SLC35D1 Gene Schneckenbecken Dysplasia NGS Genetic Test is to confirm a diagnosis of Schneckenbecken dysplasia by detecting mutations in the SLC35D1 gene. This helps in differentiating it from other skeletal dysplasias, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile equipment for blood collection
  • Store samples at ambient temperature if using FTA cards
  • Transport samples to the lab within the recommended timeframe

Doctor's Notes

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

"Early genetic testing for Schneckenbecken dysplasia can aid in timely diagnosis, management, and family planning, especially for at-risk pregnancies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or FTA card collection

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples without accompanying clinical information

Understanding Your Results

Results from the SLC35D1 Gene NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider. A positive result indicates the presence of pathogenic mutations in the SLC35D1 gene, confirming Schneckenbecken dysplasia. A negative result suggests no detectable mutations, but does not completely rule out the condition due to test limitations.
📊

Pathogenic variant detected in SLC35D1 gene, consistent with Schneckenbecken dysplasia. Genetic counseling and clinical management recommended.

Result type: Positive

📊

No pathogenic variants detected. Consider clinical correlation and further testing if symptoms persist.

Result type: Negative

📊

Genetic variant identified but clinical significance unknown. Repeat testing or family studies may be advised.

Result type: Variant of Uncertain Significance (VUS)

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if you experience symptoms of Schneckenbecken dysplasia, have a family history of the condition, or receive a positive or uncertain test result for guidance on management and family planning.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not assess for other genetic conditions unless specified
  • ⚠Psychological impact of results; counseling recommended

Risks & Considerations

  • ●Minimal physical risks from blood draw, such as bruising or infection
  • ●Psychological stress from test results
  • ●Potential for incidental findings unrelated to the condition

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions may affect DNA analysis
  • ●Technical limitations in detecting all mutation types

Compare With Similar Tests

TestSLC35D1 Gene Schneckenbecken dysplasia NGS Genetic TestWhole Exome SequencingTargeted Gene Panel for Skeletal DysplasiasChromosomal MicroarraySanger Sequencing
ComparisonSLC35D1 Gene Schneckenbecken dysplasia NGS Genetic TestBroader analysis of all genes, but more expensive and time-consuming.Tests multiple genes related to bone disorders, may include SLC35D1.Detects chromosomal abnormalities, not specific gene mutations.Traditional method for single-gene analysis, less comprehensive than NGS.

Frequently Asked Questions

What is Schneckenbecken dysplasia?
Schneckenbecken dysplasia is a rare genetic disorder that affects bone growth, characterized by abnormalities in the pelvis, spine, and limbs, caused by mutations in the SLC35D1 gene.
Who should consider this genetic test?
Individuals with symptoms like short stature, bowed legs, spinal curvature, or a family history of Schneckenbecken dysplasia should consider this test for diagnosis.
How is the test performed?
The test uses NGS technology to analyze the SLC35D1 gene from a blood sample or extracted DNA, detecting mutations associated with the condition.
What is the cost of the test?
The SLC35D1 Gene Schneckenbecken Dysplasia NGS Genetic Test costs INR 20000, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
What do the results mean?
A positive result indicates mutations in the SLC35D1 gene, confirming Schneckenbecken dysplasia. A negative result means no mutations were detected, but clinical correlation is advised.
Is genetic counseling provided?
Yes, a genetic counseling session is included to draw a family pedigree and discuss test implications.
What files are provided with the report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test report for transparency.
Are there any risks associated with the test?
The test has minimal physical risks from blood draw, but psychological impacts may occur; genetic counseling is recommended.
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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