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SLC13A5 Gene Early infantile epileptic encephalopathy type 25 NGS Genetic Test

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SLC13A5 Gene Early infantile epileptic encephalopathy type 25 NGS Genetic Test

Short Name: SLC13A5 Gene EIEE25 NGS Genetic Test

Also known as: EIEE25, SLC13A5-related early infantile epileptic encephalopathy, Developmental and epileptic encephalopathy 25 (DEE25), SLC13A5 gene mutation test

SLC13A5 Gene Early infantile epileptic encephalopathy type 25 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Variant classification using ACMG guidelines on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The report will be shared within 3 to 4 weeks from the date of sample receipt. Along with the conclusive clinical report, DNA Labs India provides raw FASTQ and VCF data files.. Free home collection in 300+ cities across India.

NGS Genetic TestPrimarily infants and children; also adults for carrier/family testing🏠 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 test is to identify disease-causing variants in the SLC13A5 gene, confirm or rule out EIEE25 in symptomatic infants, support treatment decisions, and provide information for recurrence-risk counselling and carrier testing in affected families.

Test Code
4037
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The report will be shared within 3 to 4 weeks from the date of sample receipt. Along with the conclusive clinical report, DNA Labs India provides raw FASTQ and VCF data files.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Variant classification using ACMG guidelines
Step 1

Sample Collection

A genetic counselling session is recommended before the test. The counsellor will draw a pedigree chart of family members affected with SLC13A5 gene-related EIEE25 and explain the benefits, limitations and expected outcomes of the test. No fasting is required.

Method: Venipuncture / FTA card spot / DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small amount of blood from the infant/child or transfer one drop of blood onto an FTA card, depending on the chosen sample type. The procedure is quick and minimally painful.

Step 3

Report Delivery

No special care is required after sample collection. Feeding and routine activities may be resumed immediately. The sample should be sent to the laboratory as per the collection kit instructions.

Timeline: The report will be shared within 3 to 4 weeks from the date of sample receipt. Along with the conclusive clinical report, DNA Labs India provides raw FASTQ and VCF data files.

Patient Instructions

1
Before the Test:No fasting is needed. A clinician or genetic counsellor will discuss the indication, draw a detailed family pedigree, and take informed consent for genetic testing.
2
During the Test:A blood sample is drawn from a vein, or a blood spot is placed on an FTA card. The procedure takes only a few minutes. If an infant is being tested, the sample may be collected using a heel prick or small-volume venipuncture.
3
After the Test:There are no post-test dietary or activity restrictions. Parents should wait for the report and discuss the findings with the treating doctor.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the SLC13A5 gene, confirm or rule out EIEE25 in symptomatic infants, support treatment decisions, and provide information for recurrence-risk counselling and carrier testing in affected families.

How to Prepare

  • Please schedule a home collection appointment online for convenience.
  • Use only the EDTA vacutainer, FTA card or DNA vial provided by the lab.
  • Clearly label the sample with the patient's name, date of birth and collection date.
  • Store and transport the sample as advised in the collection kit to avoid DNA degradation.

Doctor's Notes

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

"Early confirmation of an SLC13A5 mutation can guide seizure management and allow the family to understand the recurrence risk in future pregnancies. A detailed family pedigree is essential before and after testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeOne FTA spot; or 2–3 mL blood in EDTA tube (as per protocol)
ContainerEDTA vacutainer / FTA card / sterile DNA vial
Collection MethodVenipuncture / FTA card spot / DNA submission

Sample Stability

Whole blood: 24–48 hours at 2–8°C; do not freeze.
FTA card: stable at room temperature for several weeks if kept dry.
Extracted DNA: stable for several months at -20°C when stored appropriately.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient sample quantity or FTA card with poor blood spot
  • Improper labelling or incomplete test request form
  • Sample leaked or damaged in transit

Understanding Your Results

The SLC13A5 NGS genetic test analyses the SLC13A5 gene for variants that explain early infantile epileptic encephalopathy type 25. Results must be interpreted by an experienced clinician in the context of the child's symptoms, family history and other laboratory findings.
Pathogenic variant: indicates a molecular confirmation of EIEE25; clinical correlation and family follow-up are advised.
Likely pathogenic variant: high likelihood of disease association; additional evidence or family testing may be requested.
Variant of uncertain significance: cannot classify as benign or pathogenic; segregation studies in parents and affected relatives may be needed.
Benign/Likely benign variant: not considered disease-causing; the clinical diagnosis should be revisited if symptoms persist.
No pathogenic variant detected: no SLC13A5 mutation identified; other genetic or non-genetic causes may be considered.
⚠️ When to Consult a Doctor:

Consult a paediatric neurologist or medical geneticist if the child has early-onset seizures, delayed milestones, poor feeding, or abnormal involuntary movements. After the genetic report is available, schedule a post-test counselling session to understand the result, treatment possibilities, and recurrence risk.

Limitations

  • ⚠NGS may not detect all types of mutations, such as large structural rearrangements, deep intronic variants, repeat expansions or mitochondrial DNA variants.
  • ⚠A negative result does not completely exclude a genetic cause; other genes or undetected variants may still be responsible.
  • ⚠A variant of uncertain significance requires further family studies before it can be treated as disease-causing.

Risks & Considerations

  • ●Minimal discomfort or pain at the blood collection site
  • ●Small risk of bruising or mild bleeding
  • ●Very rare risk of infection if the skin is broken
  • ●No fasting or sedation-related risk exists for this test

Interfering Factors

  • ●Low quantity or degraded DNA leading to insufficient sequencing coverage
  • ●Sample contamination or mix-up during collection/transport
  • ●Rare complex variants not readily identified by NGS alignment
  • ●Clinical overlap with other epilepsy genes may require broader testing for accurate diagnosis

Compare With Similar Tests

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ComparisonSLC13A5 Gene Early infantile epileptic encephalopathy type 25 NGS Genetic Test

Frequently Asked Questions

What is early infantile epileptic encephalopathy type 25?
Early infantile epileptic encephalopathy type 25 (EIEE25) is a rare genetic neurological disorder caused by mutations in the SLC13A5 gene. It is characterised by seizures that usually begin in the first months of life, along with developmental delay, intellectual disability and abnormal brain function.
Why has the SLC13A5 gene been linked to seizures?
The SLC13A5 gene provides instructions for sodium-dependent citrate transporter, which helps move citrate into cells. When this gene is mutated, the transporter may not work properly, affecting brain energy metabolism and increasing seizure susceptibility. The exact mechanism is still being researched.
What does this NGS genetic test involve?
The test uses next-generation sequencing to read the SLC13A5 gene from a blood, extracted DNA, or FTA card sample. It detects point mutations and small insertions/deletions in the analysed regions. Variants are classified by ACMG guidelines and reported with clinical interpretation.
Who should undergo this test?
Testing is considered when an infant has early-onset seizures, unexplained developmental delay, or a clinical suspicion of EIEE25. It may also be used for family member testing after a pathogenic SLC13A5 variant has been identified, and for parents at risk for recurrence.
What sample is needed?
The test can be done on whole blood in an EDTA tube, extracted DNA, or one drop of blood spotted on an FTA card. DNA Labs India offers trained home collection services for this test.
Is fasting required before this test?
No, fasting is not required. The child can feed normally before sample collection.
What is the cost of this test in India?
DNA Labs India offers this NGS genetic test for Rs 20,000, which includes free home sample collection in many Indian cities. Additional family member testing, if required, may involve separate charges.
How long does it take to receive the report?
The report is generally issued in 3 to 4 weeks after the sample is received. It includes clinical interpretation, variant classification and the raw data files if requested.
What does a no mutation found result mean?
A negative result means no pathogenic or likely pathogenic variant was identified in the tested SLC13A5 gene regions. It does not completely exclude EIEE25 or another genetic epilepsy, because mutations in other genes or undetected complex variants could still be responsible.
What is a variant of uncertain significance (VUS)?
A VUS is a genetic change whose effect on protein function is not yet known. It is not conclusively normal or disease-causing. The report will explain the variant, and additional testing of parents or other family members may help determine its significance.
Will I receive raw data files?
Yes, DNA Labs India is transparent in sharing raw data. The conclusive clinical report is provided along with FASTQ and VCF files, allowing an independent reanalysis if needed.
Is genetic counselling recommended before and after the test?
Yes. Pre-test genetic counselling is advised to draw a family pedigree and explain the benefits and limitations. Post-test counselling helps interpret the result and discuss recurrence risk, treatment options and family screening.
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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