KIT Gene Gastrointestinal stromal tumor, familial NGS Genetic Test
Short Name: KIT GIST Familial NGS
Also known as: KIT Gene Mutation Analysis, Familial GIST Genetic Test, KIT NGS Panel
KIT Gene Gastrointestinal stromal tumor, familial 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 within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when results are ready.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS genetic test is to detect inherited (germline) mutations in the KIT gene that predispose individuals to familial gastrointestinal stromal tumor (GIST). It is used for: 1) Confirming a clinical diagnosis of familial GIST in symptomatic individuals. 2) Presymptomatic testing of at-risk family members. 3) Guiding surveillance and preventive strategies. 4) Aiding in reproductive decision-making. 5) Differentiating familial GIST from sporadic forms.
- Test Code
- 5994
- CPT Code
- 81479
- ICD Code
- Z15.09
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when results are ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss implications. Please inform the lab if you have had a blood transfusion in the past 2 weeks.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. If using FTA card, a fingerstick blood drop will be collected. The procedure is quick and minimally invasive.
Report Delivery
No restrictions. You may resume normal activities immediately. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when results are ready.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to detect inherited (germline) mutations in the KIT gene that predispose individuals to familial gastrointestinal stromal tumor (GIST). It is used for: 1) Confirming a clinical diagnosis of familial GIST in symptomatic individuals. 2) Presymptomatic testing of at-risk family members. 3) Guiding surveillance and preventive strategies. 4) Aiding in reproductive decision-making. 5) Differentiating familial GIST from sporadic forms.
How to Prepare
- For blood sample: Use EDTA tube, fill to indicated mark.
- For FTA card: Apply one drop of blood to each circle, air dry for 30 minutes.
- Label the sample with patient name, date, and unique ID.
- Transport at ambient temperature (15-30°C) within 24 hours.
- Avoid hemolysis or clotting.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Familial GIST accounts for a small percentage of GIST cases, but early identification through genetic testing can guide surveillance and preventive strategies. NGS provides comprehensive coverage of KIT mutations, enabling precise risk assessment for at-risk family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit (>72 hours) without refrigeration
- FTA card with insufficient blood spots
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of familial GIST syndrome. At-risk family members should be offered testing. Surveillance and management per oncology guidelines.
Likely pathogenic variant detected
High likelihood of pathogenicity; similar management as pathogenic variant. Further segregation analysis may be recommended.
Variant of uncertain significance (VUS)
Clinical significance unknown. Additional testing of family members or functional studies may help reclassify.
No pathogenic variants detected
Negative result. However, if clinical suspicion remains high, consider testing for other genes (e.g., PDGFRA) or somatic testing.
Consult your doctor or genetic counselor if you have a family history of GIST, experience symptoms such as abdominal pain, blood in stool, or unexplained weight loss, or if you have been diagnosed with GIST and wish to understand hereditary risk.
Limitations
- ⚠This test detects germline mutations only; somatic mutations in tumor tissue are not assessed.
- ⚠Variants in non-coding regions or deep intronic areas may not be detected by standard NGS.
- ⚠Large genomic rearrangements may not be identified by sequencing alone; additional analysis is performed.
- ⚠A negative result does not exclude the possibility of GIST due to other genes (e.g., PDGFRA) or somatic mosaicism.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Genetic counseling is recommended for result interpretation.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of learning genetic risk
- ●Potential for variants of uncertain significance causing anxiety
- ●Insurance or employment discrimination concerns (though rare)
Interfering Factors
- ●Contamination of sample with exogenous DNA
- ●Insufficient DNA quantity or quality
- ●Presence of hematologic malignancies causing clonal hematopoiesis
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Technical artifacts from NGS (e.g., PCR errors)
Compare With Similar Tests
| Test | KIT Gene Gastrointestinal stromal tumor, familial NGS Genetic Test | Single Gene KIT Sequencing | GIST NGS Panel (KIT + PDGFRA) | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | KIT Gene Gastrointestinal stromal tumor, familial NGS Genetic Test |
Frequently Asked Questions
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