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SLC1A4 Gene Developmental delay and microcephaly, SLC1A4 related NGS Genetic Test

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SLC1A4 Gene Developmental delay and microcephaly, SLC1A4 related NGS Genetic Test

Short Name: SLC1A4 NGS

Also known as: SLC1A4 Gene Mutation Test, SLC1A4 Sequencing, Developmental Delay and Microcephaly SLC1A4 NGS

SLC1A4 Gene Developmental delay and microcephaly, SLC1A4 related 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 available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestChildren and Adults🏠 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 clinically significant variants in the SLC1A4 gene that may explain developmental delay, microcephaly, and related neurological symptoms, and to support early intervention, management, and genetic counselling.

Test Code
4007
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session to draw a pedigree chart of family members and to obtain informed consent is recommended before the test. Please share the clinical history of the patient with the referring physician or genetic counselor.

Method: Peripheral venous blood / dried blood spot / extracted DNA submission

Step 2

Laboratory Analysis

A blood sample is collected by a trained phlebotomist into an EDTA tube. If an FTA card is used, one drop of blood is placed on the card and allowed to dry. If extracted DNA is submitted, it must be labelled correctly.

Step 3

Report Delivery

The sample is transported to the laboratory under appropriate conditions. Reports are usually available within 3 to 4 weeks. Post-test genetic counseling is recommended to understand the result and discuss family implications.

Timeline: Reports are available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counselling session is advised to review the patient's clinical history and draw a pedigree chart before genetic testing.
2
During the Test:A blood sample will be collected into an EDTA tube, or one drop of blood will be placed on an FTA card. The procedure is quick and generally safe.
3
After the Test:Once the sample reaches the laboratory, NGS analysis is performed. Reports are issued in 3 to 4 weeks. A genetic counselor will help explain the results.

About This Test

Who Should Get This Test

To detect clinically significant variants in the SLC1A4 gene that may explain developmental delay, microcephaly, and related neurological symptoms, and to support early intervention, management, and genetic counselling.

How to Prepare

  • No special preparation or fasting is required
  • EDTA blood or FTA card can be used
  • Sample must be labelled with patient name and unique identifier
  • Send sample to laboratory at ambient temperature as per courier guidelines
  • Include requisition form with clinical history and consent

Doctor's Notes

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

"Genetic testing for SLC1A4 should be accompanied by pre-test and post-test genetic counselling, especially when a child presents with developmental delay and microcephaly. A detailed family pedigree helps in estimating recurrence risk and supports family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeOne drop for FTA card or as required for DNA extraction
ContainerEDTA tube / FTA card / sterile DNA vial
Collection MethodPeripheral venous blood / dried blood spot / extracted DNA submission

Sample Stability

EDTA blood sample should be received by the laboratory within 24-48 hours of collection
FTA card sample can be stored at room temperature and dispatched in the provided envelope
Extracted DNA should be shipped in a labelled vial as per laboratory instructions
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect sample type or unlabelled sample
  • Sample without consent form or clinical details
  • Sample transported in inappropriate conditions

Understanding Your Results

This test identifies pathogenic or likely pathogenic variants in the SLC1A4 gene. Results must be interpreted by a clinical geneticist and should be correlated with the patient's clinical findings, family history, and pre-test counseling information.
📊

Negative

No SLC1A4-related genetic cause was identified in this test. Non-genetic causes or other genetic conditions should be considered.

📊

VUS

A variant with unclear clinical significance was found. Further family studies and clinical correlation may be required to determine its role.

📊

Positive

The result is consistent with SLC1A4-related developmental delay and microcephaly. Genetic counseling and family screening are recommended.

⚠️ When to Consult a Doctor:

If a child has unexplained developmental delay, a head circumference below the expected range for age, speech delay, seizures, abnormal muscle tone, or a family history of SLC1A4-related disorders, consult a clinical geneticist or a pediatric neurologist.

Limitations

  • ⚠NGS may not detect large structural rearrangements, repeat expansions, or deep intronic variants if not covered by the assay
  • ⚠A variant of uncertain significance may require additional family testing and functional studies
  • ⚠A negative result does not exclude non-genetic causes or other genetic disorders associated with developmental delay and microcephaly

Risks & Considerations

  • ●Minor pain or bruising at the blood collection site
  • ●Rare risk of local infection at the needle site
  • ●Dizziness or fainting during blood collection

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination during collection or handling
  • ●Incorrect or missing clinical information
  • ●Improper sample storage or transport

Frequently Asked Questions

What is SLC1A4 gene-related developmental delay and microcephaly?
SLC1A4 gene mutations can affect brain development because the gene helps regulate the glutamate neurotransmitter. This may lead to developmental delay, microcephaly, intellectual disability, speech delay, behavioral problems, seizures, and abnormal muscle tone.
What does the SLC1A4 NGS genetic test detect?
This test detects disease-causing variants in the SLC1A4 gene using Next Generation Sequencing. It helps confirm whether a person's developmental delay and microcephaly are related to SLC1A4 gene mutations.
Who should undergo the SLC1A4 gene test?
The test is recommended for individuals with unexplained global developmental delay, microcephaly, intellectual disability, speech and language delay, seizures, or a family history suggestive of SLC1A4-related neurological disorders.
What is the cost of the SLC1A4 NGS genetic test in India?
The SLC1A4 Gene Developmental delay and microcephaly, SLC1A4 related NGS Genetic Test costs Rs 20000 at DNA Labs India. Home sample collection is free for online bookings in selected cities across India.
What sample is required for this test?
The test can be done using blood, extracted DNA, or one drop of blood on an FTA card. The sample is analysed in the laboratory using NGS technology.
Is fasting required before the SLC1A4 genetic test?
No, fasting is not required for this test.
How long will it take to get the SLC1A4 NGS test report?
The report is generally available within 3 to 4 weeks after the sample reaches the laboratory.
Will I receive raw data files with my SLC1A4 test report?
Yes. DNA Labs India shares raw data, FASTQ, and VCF files along with the conclusive clinical report for transparency and further clinical analysis if needed.
How accurate is NGS genetic testing for SLC1A4?
NGS is a highly accurate method for detecting single nucleotide variants and small insertions or deletions in the SLC1A4 gene. The result should always be interpreted in the context of clinical findings and confirmed by appropriate follow-up if indicated.
What does a positive or negative result mean?
A positive result indicates a pathogenic or likely pathogenic variant in SLC1A4 that may explain the clinical features. A negative result means no such variant was detected, but non-genetic causes or other genetic disorders should still be considered.
Is genetic counseling available with this test?
Yes, DNA Labs India provides genetic counseling sessions. A pre-test counseling session helps draw the family pedigree, and post-test counseling helps explain the result and recurrence risk.
Can I book the SLC1A4 gene test from any city in India?
Online bookings include free home sample collection in many cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Jaipur, Ahmedabad, and other major locations.
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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