ITPR1 Gene Gillespie Syndrome NGS Genetic Test
Short Name: ITPR1 NGS Test
Also known as: Gillespie syndrome NGS test, ITPR1 genetic test, Spinocerebellar ataxia type 15 genetic test, ITPR1 mutation analysis
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 Results are available in 3 to 4 weeks from sample receipt. The clinical report and raw data files (FASTQ, VCF) are shared as per the laboratory's transparency policy.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to provide a molecular diagnosis for individuals with signs of ITPR1-associated disorders by detecting pathogenic variants in the ITPR1 gene using NGS technology. Genetic confirmation can guide prognosis, family counselling, and future reproductive decisions.
- Test Code
- 3830
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are available in 3 to 4 weeks from sample receipt. The clinical report and raw data files (FASTQ, VCF) are shared as per the laboratory's transparency policy.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. It is recommended to carry any previous clinical reports, imaging findings, and family history for genetic counselling.
Method: Venipuncture / FTA card blood spot / submission of extracted DNA
Laboratory Analysis
A small blood sample will be collected from a vein by a trained phlebotomist. For the FTA card, a small finger/heel prick blood drop is applied on the card. The procedure is quick and safe.
Report Delivery
You can leave the laboratory immediately and continue all daily activities. No restrictions are necessary after sample collection.
Timeline: Results are available in 3 to 4 weeks from sample receipt. The clinical report and raw data files (FASTQ, VCF) are shared as per the laboratory's transparency policy.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to provide a molecular diagnosis for individuals with signs of ITPR1-associated disorders by detecting pathogenic variants in the ITPR1 gene using NGS technology. Genetic confirmation can guide prognosis, family counselling, and future reproductive decisions.
How to Prepare
- For whole blood: collect in an EDTA vacutainer and invert gently 8-10 times.
- For FTA card: apply one drop of blood, air dry for 30 minutes, and pack in a biohazard bag.
- For extracted DNA: provide a properly labelled DNA sample with adequate quantity and purity.
- Label the sample with the patient's full name, date of birth, and collection date.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Prenatal genetic counselling should be offered when a family has a known ITPR1 mutation. This test can also be considered in preconception counselling to assess recurrence risk for at-risk couples. The gynaecologist or obstetrician works with the clinical geneticist to guide testing and interpret implications for family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolyzed blood sample
- Insufficient DNA quantity/quality
- Incorrectly labelled or unlabelled sample
- Sample exposed to extreme temperatures
- Breakage of tube during transport
Understanding Your Results
No pathogenic variant detected
No disease-causing variant was found in the ITPR1 coding and splice-site regions tested. A clinical diagnosis of ITPR1-related disorder is not excluded.
Clinical recommendation: Consider a broader ataxia or neurogenetic panel and re-evaluation by a clinical geneticist.
Heterozygous pathogenic or likely pathogenic variant
Detection of a heterozygous pathogenic variant is consistent with an autosomal dominant ITPR1-related disorder such as spinocerebellar ataxia type 15 or Gillespie syndrome.
Clinical recommendation: Genetic counselling and testing of appropriate family members are advised.
Variant of uncertain significance (VUS)
A rare sequence change was identified, but its effect on the protein is not yet proven.
Clinical recommendation: Segregation studies in family members and further clinical correlation may help clarify significance.
If the test result is positive or uncertain, please consult a clinical geneticist or neurologist for detailed interpretation. Also seek medical advice if the individual has new or worsening neurological symptoms.
Limitations
- ⚠NGS primarily detects single-nucleotide variants and small insertions/deletions in targeted regions; large deletions/duplications, structural rearrangements, trinucleotide repeat expansions, and deep intronic variants may not be detected.
- ⚠A negative result does not exclude the clinical diagnosis of Gillespie syndrome or spinocerebellar ataxia type 15.
- ⚠Variant classification may be affected by insufficient family segregation data or evolving scientific literature.
Risks & Considerations
- ●No significant risks
- ●Minimal discomfort or bruising at the venipuncture site
- ●FTA card collection: slight pinch during blood spot collection
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Low sequencing coverage in specific gene regions
- ●Sample mix-up or incorrect labelling
Compare With Similar Tests
| Test | ITPR1 Gene Gillespie Syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Hereditary Ataxia NGS Panel | Intellectual Disability / Developmental Delay NGS Panel |
|---|---|---|---|---|
| Comparison | ITPR1 Gene Gillespie Syndrome NGS Genetic Test |
Frequently Asked Questions
What is the ITPR1 Gene Gillespie Syndrome NGS Genetic Test?
What are the common symptoms of Gillespie syndrome?
Who should take this test?
What sample is required?
Do I need to fast before this test?
How long does the test take?
What is the cost of the test?
Why should I ask for raw data, FASTQ and VCF files?
Can this test identify spinocerebellar ataxia type 15?
Does a negative result completely rule out Gillespie syndrome?
Is home sample collection available for this test?
Will this test be covered by insurance?
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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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