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SLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic Test

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SLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic Test

Short Name: SLC35A3 Gene NGS Test

Also known as: SLC35A3 Gene Sequencing Test

SLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3-4 weeks from sample collection.. Free home collection in 300+ cities across India.

Next-Generation SequencingAll 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

To diagnose mutations in the SLC35A3 gene that cause arthrogryposis, mental retardation, and seizures, enabling accurate clinical management and genetic counseling.

Test Code
2360
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3-4 weeks from sample collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Review clinical history and conduct a genetic counseling session to draw a family pedigree chart.

Method: Standard blood draw via venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw procedure performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is securely transported to the laboratory for NGS analysis.

Timeline: 3-4 weeks from sample collection.

Patient Instructions

1
Before the Test:Genetic counseling and assessment of clinical history and family pedigree.
2
During the Test:Blood sample collection for DNA extraction and NGS sequencing.
3
After the Test:Report generation, genetic counseling for result interpretation, and clinical guidance.

About This Test

Who Should Get This Test

To diagnose mutations in the SLC35A3 gene that cause arthrogryposis, mental retardation, and seizures, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure proper labeling of samples
  • Avoid hemolysis during blood collection
  • Store samples at recommended temperatures

Doctor's Notes

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

"This genetic test is essential for diagnosing rare neurological conditions affecting development, aiding in clinical management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample Volume5-10 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodStandard blood draw via venipuncture or finger prick

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for up to 1 week at 4°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or mislabeled samples
  • Improper storage conditions

Understanding Your Results

Results indicate whether pathogenic mutations in the SLC35A3 gene are detected, which correlate with the associated neurological disorders.
📊

Normal

No pathogenic variants in SLC35A3 gene detected. Clinical symptoms may be due to other genetic or environmental factors.

📊

Pathogenic variant detected

Genetic mutation identified in SLC35A3 gene. Correlates with clinical presentation of arthrogryposis, mental retardation, and seizures. Genetic counseling and further evaluation recommended.

⚠️ When to Consult a Doctor:

If symptoms such as joint stiffness, intellectual disability, seizures, or developmental delays are present, or for family planning if there is a known family history of SLC35A3 mutations.

Limitations

  • ⚠May not detect all types of genetic variants
  • ⚠Results require correlation with clinical symptoms
  • ⚠Genetic counseling is recommended for interpretation

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection, or fainting
  • ●Emotional impact of genetic results; counseling provided

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Compare With Similar Tests

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ComparisonSLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic Test

Frequently Asked Questions

What is the SLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the SLC35A3 gene, which are associated with neurological disorders including joint stiffness, intellectual disability, and seizures.
Why is this test recommended?
It is recommended for individuals showing symptoms of arthrogryposis, mental retardation, or seizures, or with a family history of such conditions, to confirm a genetic diagnosis.
What symptoms indicate the need for this test?
Symptoms include arthrogryposis, mental retardation, seizures, delayed speech, muscle weakness, and abnormal spinal curvature.
How is the sample collected for this test?
A blood sample is collected via venipuncture or finger prick; alternatively, extracted DNA or blood on an FTA card can be used.
What is the cost of the SLC35A3 Gene Test in India?
The test costs INR 20000.0 at DNA Labs India, with home collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across numerous cities in India for this test.
How long will it take to receive the test results?
Results are typically available within 3 to 4 weeks from sample collection.
What do abnormal results indicate?
Abnormal results indicate the presence of pathogenic mutations in the SLC35A3 gene, which may cause the associated neurological disorders. Genetic counseling is advised.
Are there any risks associated with this test?
The test involves minimal risks from blood collection, such as bruising or infection. Emotional support is available through genetic counseling.
Can this test be used for carrier testing or prenatal diagnosis?
It can be used for carrier testing if a mutation is known in the family. Prenatal diagnosis may be possible through genetic counseling and specialized procedures.
What should I do if I have a family history of these disorders?
Consider genetic testing and counseling to assess risk and guide management or family planning decisions.
Does DNA Labs India provide genetic counseling for this test?
Yes, genetic counseling is included as part of the test service to help interpret results and provide support.
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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