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SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic Test

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SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic Test

Short Name: SPATA5 NGS Genetic Test

Also known as: SPATA5-Related Syndrome Genetic Test, SPATA5 Gene Mutation Analysis, Epilepsy Hearing Loss Intellectual Disability NGS Panel

SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome 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 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 pathogenic variants in the SPATA5 gene that cause a rare autosomal recessive syndrome with epilepsy, hearing loss, and intellectual disability, thereby confirming diagnosis and enabling appropriate management and genetic counseling.

Test Code
4076
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 special preparation is required. Please carry any previous medical records and pedigree chart if available.

Method: Peripheral blood draw / Dried blood spot on FTA card

Step 2

Laboratory Analysis

A blood sample or FTA card blood spot is collected by a trained phlebotomist. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No restrictions. You can resume normal activities immediately after sample collection.

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

Patient Instructions

1
Before the Test:No special preparation required. A genetic counseling session is recommended to draw a pedigree chart and understand the inheritance pattern in the family.
2
During the Test:Standard blood draw or FTA card sample collection. Minimal discomfort.
3
After the Test:No special precautions. The sample will be processed in the laboratory, and reports will be shared within 3 to 4 weeks.

About This Test

Who Should Get This Test

To detect pathogenic variants in the SPATA5 gene that cause a rare autosomal recessive syndrome with epilepsy, hearing loss, and intellectual disability, thereby confirming diagnosis and enabling appropriate management and genetic counseling.

How to Prepare

  • Sample type: Blood (EDTA) or Extracted DNA or FTA card
  • Fasting is not required
  • Refrigerate sample if there is a delay in transport
  • Clearly label the sample with the patient's name and date of birth

Doctor's Notes

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

"Early genetic diagnosis in unexplained epilepsy and hearing loss can significantly influence management and family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood / 1 spot on FTA card / 1 µg DNA
ContainerEDTA vacutainer / DNA vial / FTA card
Collection MethodPeripheral blood draw / Dried blood spot on FTA card

Sample Stability

Whole blood (EDTA): 48 hours at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: 1 year at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Clotted blood sample
  • Sample not labeled or mislabeled
  • Sample in wrong container (e.g., heparin tube)

Understanding Your Results

Interpretation of SPATA5 gene variants should be performed in the context of clinical presentation and family history. Variants are classified according to ACMG (American College of Medical Genetics and Genomics) guidelines.
📊

Pathogenic

📊

Likely pathogenic

📊

VUS (Variant of Uncertain Significance)

📊

Likely benign / Benign

⚠️ When to Consult a Doctor:

If the test identifies a pathogenic variant, consult a clinical geneticist for management and genetic counseling. If the test is negative, additional evaluation may be recommended to explore other causes of the symptoms.

Limitations

  • ⚠NGS does not detect large structural rearrangements or copy number variants reliably
  • ⚠Mutations in non-coding regulatory regions may not be identified
  • ⚠Analysis is limited to SPATA5 gene and does not cover all epilepsy/hearing loss genes
  • ⚠In rare cases, mosaicism may be missed

Risks & Considerations

  • ●No significant risks. Blood draw may cause mild bruising, bleeding, or dizziness in rare cases.

Interfering Factors

  • ●Recent blood transfusion within 6 weeks may contaminate DNA analysis
  • ●Bone marrow transplantation can affect results
  • ●Sample contamination with another individual's DNA
  • ●Inadequate sample quantity or degraded DNA

Compare With Similar Tests

TestSPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic TestWhole Exome Sequencing (WES)Epilepsy Gene PanelHearing Loss Gene Panel
ComparisonSPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic Test

Frequently Asked Questions

What is the SPATA5 gene?
The SPATA5 gene provides instructions for making a protein that is crucial for mitochondrial function. Mitochondria produce energy for the cell, and disruption of this process can lead to a spectrum of clinical problems including epilepsy, hearing loss, and mental retardation.
What does this NGS genetic test detect?
The test detects mutations (pathogenic variants) in the SPATA5 gene using Next Generation Sequencing. It covers the coding regions and splice sites of the gene, helping confirm or rule out SPATA5-associated syndrome.
Who should take this test?
This test is recommended for individuals with unexplained epilepsy, hearing loss, developmental delay, muscle weakness, or abnormal eye movements—especially when a syndromic cause is suspected. Patients with a family history of SPATA5-related syndrome or consanguinity may also benefit.
What is the cost of the SPATA5 NGS test in India?
The cost is Rs 20000 at DNA Labs India. Prices from other laboratories may range from INR 20,000 to INR 30,000, but we offer a transparent reporting system that includes raw data files.
What sample is required?
The test can be performed on 5 mL of blood in an EDTA tube, a single spot of blood on an FTA card, or 1 microgram of extracted DNA. Home collection is available for online bookings.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to get results?
The turnaround time for the SPATA5 NGS genetic test is 3 to 4 weeks, as the test involves complex sequencing and data analysis.
What is a genetic counseling session?
A genetic counseling session involves discussing the patient's personal and family medical history, drawing a pedigree chart, explaining the inheritance pattern, and helping the family understand the implications of genetic test results.
Can this test detect all types of SPATA5 mutations?
NGS is highly accurate for detecting small nucleotide variants and small insertions/deletions in the coding regions. However, it may not detect large deletions, structural rearrangements, or mutations in deep intronic regions.
What is the significance of raw data, FASTQ, and VCF files?
Raw data (FASTQ) and variant call format (VCF) files allow a secondary analysis or re-interpretation of the sequencing data. DNA Labs India is the only lab that shares these files with the clinical report, ensuring full transparency.
Is the test covered by insurance?
Most insurance policies do not cover genetic tests. It is advisable to check with your insurance provider. DNA Labs India offers a discounted price of Rs 20000 for online bookings.
How can I book this test?
You can book the test online through the DNA Labs India website or by calling our helpline. Home sample collection is available in major cities across India.
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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