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SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic Test

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SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic Test

Short Name: SLC12A6 Gene ACC with Peripheral Neuropathy NGS Test

Also known as: ACC with Peripheral Neuropathy, SLC12A6 Gene Disorder

SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy 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 4 to 25 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

To detect mutations in the SLC12A6 gene for diagnosis, genetic counseling, and family planning.

Test Code
1505
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
4 to 25 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counseling session recommended. Provide clinical history and family pedigree chart.

Method: Venipuncture for blood or finger prick for FTA card

Step 2

Laboratory Analysis

Blood sample drawn by trained phlebotomist or at home collection service.

Step 3

Report Delivery

Sample labeled and transported to laboratory under controlled conditions.

Timeline: 4 to 25 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to understand the test, implications, and obtain informed consent.
2
During the Test:Blood sample collection via venipuncture or home collection service.
3
After the Test:Wait for results as per turnaround time and follow up with genetic counselor for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the SLC12A6 gene for diagnosis, genetic counseling, and family planning.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Avoid hemolysis by gentle handling of blood samples
  • Use sterile equipment for collection

Doctor's Notes

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

"Early genetic testing is crucial for families with a history of this disorder to enable timely management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood or finger prick for FTA card

Sample Stability

Room temperature
Refrigerated (2-8°C)
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or improperly labeled sample
  • Sample received after stability period

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC12A6 gene, aiding in diagnosis and management.
📊

Pathogenic variant detected

Consistent with diagnosis of SLC12A6-related disorder. Genetic counseling and management advised.

📊

No pathogenic variant detected

Unlikely affected by this genetic condition, but consider other etiologies if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if test results are positive, symptoms persist, or for family planning purposes.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Results require interpretation by a qualified geneticist
  • ⚠Cannot predict disease severity or onset

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or discomfort
  • ●Potential for uncertain results requiring further testing
  • ●Emotional impact from genetic diagnosis

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolysis in blood samples

Compare With Similar Tests

TestSLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic TestWhole Exome SequencingSanger Sequencing for SLC12A6Neurological Genetic Panel
ComparisonSLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic TestBroader analysis but more expensive and time-consumingTargeted but may miss novel variants compared to NGSCovers multiple genes but may not focus solely on SLC12A6

Frequently Asked Questions

What is SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy?
It is a rare genetic disorder caused by mutations in the SLC12A6 gene, characterized by underdevelopment of the corpus callosum and peripheral neuropathy.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing technology to analyze DNA from a blood sample for mutations in the SLC12A6 gene.
What is the cost of the SLC12A6 Gene NGS Genetic Test?
The cost is INR 20000, with home sample collection available at no extra charge.
Is home sample collection available for this test?
Yes, free home sample collection is offered across India for online bookings.
Who should get this genetic test?
Individuals with a family history of the disorder, symptoms such as developmental delays or seizures, or those undergoing genetic counseling.
What are the common symptoms of this disorder?
Symptoms include developmental delays, intellectual disabilities, seizures, abnormal eye movements, muscle weakness, and numbness in hands and feet.
How long does it take to receive the test results?
Results are typically available within 4 to 25 weeks after sample collection.
Is the NGS Genetic Test accurate?
Yes, NGS is a highly advanced and accurate method for detecting mutations in the SLC12A6 gene.
What if the test result is positive?
A positive result confirms the genetic diagnosis, and genetic counseling is recommended for management and family planning.
Can this test be used for prenatal diagnosis?
It may be used in conjunction with genetic counseling for prenatal testing, but consult a healthcare provider for specific cases.
Are there any risks associated with the test?
Risks are minimal, primarily from blood draw, and may include potential emotional impact from results.
How do I prepare for the test?
No fasting is required. Provide clinical history and family pedigree during genetic counseling before sample collection.
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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