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SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic Test

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SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic Test

Short Name: SLC5A7 Myasthenic Syndrome Test

Also known as: Congenital Myasthenic Syndrome Type 20, SLC5A7-related Myasthenic Syndrome, Presynaptic Congenital Myasthenic Syndrome

SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

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 this genetic test is to identify pathogenic mutations in the SLC5A7 gene responsible for congenital myasthenic syndrome type 20. It confirms diagnosis, guides treatment strategies such as cholinesterase inhibitors, and informs family planning through genetic counseling and risk assessment.

Test Code
1750
ICD Code
G70.2
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 at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing for Confirmation
Step 1

Sample Collection

Obtain informed consent from the patient. Review clinical history and ensure no recent blood transfusions. Provide genetic counseling if needed.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Collect blood sample aseptically using standard venipuncture technique or spot blood on FTA card as per instructions. Ensure proper labeling.

Step 3

Report Delivery

Label the sample correctly with patient details. Transport to the laboratory under appropriate conditions, such as ambient temperature for FTA cards.

Timeline: 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Complete clinical history, physical examination, and genetic counseling are essential prerequisites before proceeding with the test.
2
During the Test:The test involves DNA extraction from the sample and next-generation sequencing of the SLC5A7 gene, followed by bioinformatics analysis.
3
After the Test:Results are reviewed by a geneticist, and a detailed clinical report is generated. Post-test genetic counseling is recommended to discuss findings.

About This Test

Who Should Get This Test

The purpose of this genetic test is to identify pathogenic mutations in the SLC5A7 gene responsible for congenital myasthenic syndrome type 20. It confirms diagnosis, guides treatment strategies such as cholinesterase inhibitors, and informs family planning through genetic counseling and risk assessment.

How to Prepare

  • Use sterile equipment for blood collection to prevent contamination
  • For FTA card, ensure blood is fully absorbed and allowed to dry completely
  • Avoid touching the collection area to maintain sample integrity
  • Store blood samples at 2-8°C if not using FTA card, and transport promptly

Doctor's Notes

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

"Genetic testing for congenital myasthenic syndromes is crucial for early diagnosis and personalized management. Consult a geneticist for comprehensive counseling."

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 blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume for analysis
  • Hemolyzed, clotted, or contaminated blood samples
  • Incorrectly labeled or unlabeled samples
  • Samples stored or transported improperly

Understanding Your Results

Results of the SLC5A7 genetic test should be interpreted by a qualified geneticist or neurologist in conjunction with clinical presentation and family history.
📊

Pathogenic Variant Detected

Confirms diagnosis of congenital myasthenic syndrome type 20. Genetic counseling recommended for family members and management planning.

📊

No Pathogenic Variants Detected

SLC5A7 mutations not identified. Consider other genetic causes or non-genetic factors. Further clinical evaluation may be needed.

📊

Variant of Uncertain Significance (VUS)

Further testing, family studies, or functional assays required to determine clinical significance. Genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist immediately if the test is positive, or if symptoms persist despite negative results for further evaluation and management.

Limitations

  • ⚠This test may not detect all types of mutations in the SLC5A7 gene, such as large deletions or duplications
  • ⚠Variants of uncertain significance (VUS) may require further family studies or functional analysis
  • ⚠Results must be correlated with clinical findings and family history for accurate interpretation

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising, bleeding, or infection at the puncture site
  • ●Potential emotional stress or anxiety from genetic test results

Interfering Factors

  • ●Hemolyzed or degraded DNA samples may affect test accuracy
  • ●Recent blood transfusions within 7 days could interfere with DNA analysis
  • ●Improper sample collection or storage conditions

Compare With Similar Tests

TestSLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic TestCHRNE Gene Myasthenic Syndrome NGS TestRAPSN Gene Myasthenic Syndrome NGS TestComprehensive Myasthenic Syndrome Panel
ComparisonSLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic Test

Frequently Asked Questions

What is SLC5A7 gene myasthenic syndrome?
It is a rare congenital disorder caused by mutations in the SLC5A7 gene, leading to defective acetylcholine synthesis at the neuromuscular junction, resulting in muscle weakness and fatigue.
How is the NGS genetic test performed?
The test uses next-generation sequencing to analyze DNA from blood or FTA card samples, identifying mutations in the SLC5A7 gene with high accuracy.
What are the common symptoms of this syndrome?
Symptoms include muscle weakness, fatigue, difficulty breathing or swallowing, droopy eyelids (ptosis), and slurred speech, often from infancy.
Who should consider getting tested?
Individuals with unexplained neuromuscular symptoms, a family history of congenital myasthenic syndromes, or negative results for other disorders should consider testing.
What is the cost of the SLC5A7 genetic test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across major cities in India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from sample receipt, delivered via online portal, email, or WhatsApp.
What if the test detects a pathogenic variant?
A positive result confirms the diagnosis, and genetic counseling is recommended to discuss treatment options, management strategies, and family implications.
Can this test be used for prenatal diagnosis?
While primarily diagnostic, it may inform prenatal planning through carrier testing and genetic counseling, but consult a geneticist for specific guidance.
What is the difference between this test and other myasthenic syndrome tests?
This test specifically targets the SLC5A7 gene, while other tests like CHRNE or RAPSN focus on different genes associated with congenital myasthenic syndromes.
Is genetic counseling included with the test?
Yes, DNA Labs India includes a genetic counseling session to discuss test implications, results, and family planning.
How accurate is the NGS genetic test for this condition?
NGS technology provides high sensitivity and specificity for detecting SLC5A7 gene mutations, but accuracy depends on sample quality and variant type.
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

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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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