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ITPR1 Gene Gillespie syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ITPR1 Gene Gillespie syndrome NGS Genetic Test

Short Name: ITPR1 NGS Genetic Test

Also known as: ITPR1 gene sequencing, Gillespie syndrome genetic testing, ITPR1 Next-Generation Sequencing

ITPR1 Gene Gillespie 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 typically delivered in 3 to 4 weeks after the sample reaches the lab. This time allows for DNA extraction, library preparation, sequencing, bioinformatics analysis, and clinical interpretation.. 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 3, 2026

Overview

To confirm a clinical diagnosis of Gillespie syndrome by identifying pathogenic variants in the ITPR1 gene using NGS technology.

Test Code
4101
Price
₹20,000
Sample Type
Blood or Extracted DNA or one drop blood on FTA card
Result Time
Reports are typically delivered in 3 to 4 weeks after the sample reaches the lab. This time allows for DNA extraction, library preparation, sequencing, bioinformatics analysis, and clinical interpretation.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. A genetic counseling session to draw a pedigree chart is recommended before testing.

Method: Venipuncture or blood spot on FTA card

Step 2

Laboratory Analysis

Blood sample will be collected by a phlebotomist; alternatively, a finger-prick blood spot can be placed on an FTA card.

Step 3

Report Delivery

The sample will be transported to the laboratory at ambient temperature. The report will be delivered in 3 to 4 weeks.

Timeline: Reports are typically delivered in 3 to 4 weeks after the sample reaches the lab. This time allows for DNA extraction, library preparation, sequencing, bioinformatics analysis, and clinical interpretation.

Patient Instructions

1
Before the Test:No special preparation is required. However, a genetic counseling session is recommended to understand the implications of the test and to draw a family pedigree for better interpretation of results.
2
During the Test:During the test, a small blood sample will be drawn from a vein in your arm. For FTA card collection, a simple finger prick will be done. The sample is then sent to the laboratory for NGS analysis.
3
After the Test:After the test, you can resume normal activities immediately. The laboratory will analyze the sample and generate a detailed report within 3 to 4 weeks. You will be notified when the report is available online.

About This Test

Who Should Get This Test

To confirm a clinical diagnosis of Gillespie syndrome by identifying pathogenic variants in the ITPR1 gene using NGS technology.

How to Prepare

  • Collect whole blood in an EDTA tube or spot one drop of blood on an FTA card.
  • Ensure the sample is labeled with patient name and unique ID.
  • Samples should be transported to the laboratory at ambient room temperature.
  • If using an FTA card, allow the blood spot to air dry completely before storing or shipping.

Doctor's Notes

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

"Genetic testing for rare neurological syndromes like Gillespie syndrome is essential for accurate diagnosis, prognosis, and family planning. I recommend the ITPR1 NGS panel when clinical features suggest this condition."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or one drop blood on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood spot on FTA card

Sample Stability

EDTA blood: stable for 72 hours at room temperature
FTA card: stable for 4 weeks at room temperature
Extracted DNA: stable for 6 months at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled sample
  • FTA card with insufficient or contaminated blood spot
  • Sample received after prolonged transit without proper packaging

Understanding Your Results

The interpretation of the ITPR1 gene NGS analysis should be performed by a clinical geneticist. The result report will classify variants according to ACMG guidelines.
📊

Pathogenic or likely pathogenic variant detected

Action: Confirms the clinical diagnosis of ITPR1-related Gillespie syndrome. Genetic counseling and family cascade testing recommended.

📊

Variant of uncertain significance (VUS)

Action: Need further segregation analysis or functional studies. Consult a geneticist for reclassification.

📊

No pathogenic variant detected

Action: Does not rule out Gillespie syndrome; consider other genetic causes or testing methods such as chromosomal microarray or whole exome sequencing.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or your child has delayed motor milestones, ataxia, nystagmus, intellectual disability, or features of aniridia, especially when these occur together.

Limitations

  • ⚠NGS may not detect large deletions, duplications, repeat expansions, or deep intronic variants
  • ⚠Variants of uncertain significance may require additional family studies
  • ⚠This test is not intended for prenatal diagnosis or screening of healthy individuals without clinical indication
  • ⚠Results should be interpreted in the context of the clinical presentation and by a qualified geneticist

Risks & Considerations

  • ●No major risks. Blood draw may cause minor pain, bruising, or hematoma at the puncture site.
  • ●FTA card sample collection is minimally invasive and painless.

Interfering Factors

  • ●Recent blood transfusion may affect DNA analysis
  • ●Bone marrow transplant recipients can show mixed DNA profiles
  • ●Poor sample quality or quantity may lead to inconclusive results
  • ●Hemolyzed blood samples may compromise DNA integrity

Compare With Similar Tests

TestITPR1 Gene Gillespie syndrome NGS Genetic TestITPR1 Targeted NGS PanelCerebellar Ataxia NGS PanelWhole Exome Sequencing
ComparisonITPR1 Gene Gillespie syndrome NGS Genetic Test

Frequently Asked Questions

What is Gillespie syndrome?
Gillespie syndrome is a rare genetic disorder characterised by partial aniridia, non-progressive cerebellar ataxia, intellectual disability, and endocrine abnormalities. It is caused by mutations in the ITPR1 gene.
What is the ITPR1 gene?
The ITPR1 gene provides instructions for making an inositol trisphosphate receptor, which plays a role in calcium signaling in the brain, particularly the cerebellum. Mutations cause Gillespie syndrome.
How is the ITPR1 NGS genetic test performed?
The test uses next-generation sequencing technology to read the DNA sequence of the ITPR1 gene. A blood or FTA card sample is collected, DNA is extracted, and sequencing is performed to detect mutations.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India. This includes home collection, sample processing, NGS sequencing, and a detailed clinical report.
What sample types are accepted?
We accept whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required. The test can be done at any time of the day.
How long does it take to get the report?
The report is available within 3 to 4 weeks after the sample reaches the laboratory.
Does the report include raw data files?
Yes, DNA Labs India provides raw data files (FASTQ and VCF) along with the clinical report for complete transparency.
Who should get this test?
This test is recommended for individuals with features of Gillespie syndrome, a family history of ITPR1-related disorders, or unexplained cerebellar ataxia with aniridia or intellectual disability.
Can this test be done from home?
Yes, we offer free home sample collection across major cities in India. You can book the test online and a phlebotomist will visit you.
What does a positive test result mean?
A positive result (pathogenic variant) confirms the clinical diagnosis of Gillespie syndrome and enables genetic counseling and management planning.
What are the limitations of this test?
NGS may not detect large structural rearrangements, deep intronic variants, or epigenetic changes. Results should be interpreted in the clinical context.
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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