PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test
Short Name: PTF1A Gene NGS Test
Also known as: PTF1A Mutation Analysis, PTF1A Gene Sequencing Test, Pancreatic Agenesis Genetic Test, Cerebellar Agenesis NGS Test, PTF1A Next Generation Sequencing Test
PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing for Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the DNA Labs India online portal, email, and WhatsApp.. 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 the PTF1A Gene NGS Genetic Test is to identify pathogenic mutations in the PTF1A gene that cause pancreatic and cerebellar agenesis. This test aids in confirming a clinical diagnosis, differentiating this condition from other metabolic and neurological disorders, guiding treatment decisions, enabling genetic counseling for affected families, facilitating carrier testing for at-risk family members, and supporting informed reproductive planning.
- Test Code
- 2210
- CPT Code
- 81479
- ICD Code
- Q45.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the DNA Labs India online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing for Confirmation
Sample Collection
A pre-test genetic counseling session is recommended to discuss the test purpose, implications, limitations, and to draw a detailed pedigree chart of family members affected with pancreatic and cerebellar agenesis. The clinical history of the patient, including any prior imaging results, metabolic findings, and family history, should be provided to the referring physician.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of peripheral blood via venipuncture into an EDTA vacutainer tube. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The collection procedure typically takes less than 10 minutes.
Report Delivery
The collected sample will be properly labeled, stored at ambient room temperature, and transported to the DNA Labs India laboratory under controlled conditions. The sample undergoes DNA extraction, library preparation, and NGS sequencing of the PTF1A gene. Results are reviewed by a certified clinical geneticist and a comprehensive clinical report is generated.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the DNA Labs India online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PTF1A Gene NGS Genetic Test is to identify pathogenic mutations in the PTF1A gene that cause pancreatic and cerebellar agenesis. This test aids in confirming a clinical diagnosis, differentiating this condition from other metabolic and neurological disorders, guiding treatment decisions, enabling genetic counseling for affected families, facilitating carrier testing for at-risk family members, and supporting informed reproductive planning.
How to Prepare
- Ensure the patient or guardian has signed informed consent before sample collection
- Use a sterile EDTA vacutainer tube for blood collection or an FTA card for one-drop blood collection
- Label the sample clearly with patient name, date of birth, sample ID, and date of collection
- Store the sample at ambient room temperature (15-30°C) until transport
- Transport the sample to the laboratory within 48 hours of collection
- Avoid hemolysis by gently mixing the blood with EDTA immediately after collection
- If using an FTA card, allow the blood spot to air-dry completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an obstetrician, I recommend PTF1A genetic testing for families with a history of pancreatic or cerebellar malformations. Early detection through prenatal or postnatal genetic testing enables informed decision-making, timely neonatal management, and appropriate genetic counseling for future pregnancies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Severely hemolyzed sample
- Insufficient sample volume (less than 2 mL of blood)
- Incorrect container type used for sample collection
- Sample received beyond the stability period without proper storage indication
- Unlabeled or mislabeled samples
- Clotted blood in EDTA tube
Understanding Your Results
No Pathogenic Variant Detected
No disease-causing mutations were identified in the PTF1A gene. This result does not completely exclude pancreatic and cerebellar agenesis, as mutations may exist in other genes or in non-coding regions not covered by this test. Clinical correlation and further investigation may be warranted.
Pathogenic Variant Detected (Homozygous)
Two copies of a known disease-causing mutation were identified in the PTF1A gene, consistent with autosomal recessive pancreatic and cerebellar agenesis. Both parents are expected to be carriers. Genetic counseling and family screening are strongly recommended.
Pathogenic Variant Detected (Heterozygous / Carrier)
One copy of a disease-causing mutation was identified in the PTF1A gene. The individual is a carrier of the condition. While carriers are typically unaffected, they can pass the mutation to their offspring. Carrier testing of the partner and genetic counseling are recommended.
Compound Heterozygous Variants Detected
Two different pathogenic mutations were identified on the two copies of the PTF1A gene, consistent with autosomal recessive pancreatic and cerebellar agenesis. This finding confirms the molecular diagnosis. Genetic counseling for the family is strongly recommended.
Variant of Uncertain Significance (VUS)
A genetic variant in the PTF1A gene was detected, but its clinical significance is currently unknown. Further family studies, functional analyses, and clinical correlation are recommended to determine whether this variant is associated with the patient's condition.
Consult your doctor if you or your child experience symptoms such as persistent abnormal glucose levels, difficulty in feeding or digestion, unexplained developmental delays, low muscle tone, seizures, or if neuroimaging reveals cerebellar abnormalities. A doctor should also be consulted if there is a known family history of pancreatic and cerebellar agenesis or if prenatal imaging suggests organ malformations.
Limitations
- ⚠This test may not detect large genomic deletions, duplications, or structural rearrangements in the PTF1A gene
- ⚠Intronic and regulatory region variants outside the targeted coding regions and exon-intron boundaries may not be identified
- ⚠Results should always be correlated with clinical findings, family history, and other diagnostic investigations
- ⚠A negative result does not completely exclude other genetic or non-genetic causes of pancreatic and cerebellar agenesis
- ⚠Variants of uncertain significance (VUS) may be identified and may require further family studies for interpretation
Risks & Considerations
- ●Minimal risk associated with blood draw, including slight pain or discomfort at the puncture site
- ●Possible minor bruising or swelling at the venipuncture site
- ●Rare risk of infection at the blood collection site
- ●Emotional or psychological impact of receiving genetic test results, particularly if pathogenic variants are identified
- ●Risk of identifying variants of uncertain significance that may cause anxiety without providing a definitive diagnosis
Interfering Factors
- ●Recent blood transfusion (within the last 30 days) may affect DNA analysis results
- ●History of bone marrow or stem cell transplant may yield misleading results
- ●Sample contamination during collection or transport may compromise test accuracy
- ●Degraded DNA due to improper sample storage or transport conditions
Compare With Similar Tests
| Test | PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test | Sanger Sequencing | Whole Exome Sequencing (WES) | Chromosomal Microarray Analysis (CMA) | Whole Genome Sequencing (WGS) |
|---|---|---|---|---|---|
| Comparison | PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test |
Frequently Asked Questions
What is the PTF1A Gene Pancreatic and Cerebellar Agenesis NGS Genetic Test?
What is the cost of the PTF1A Gene NGS Genetic Test in India?
What sample is required for the PTF1A Gene NGS Genetic Test?
Who should get the PTF1A Gene NGS Genetic Test?
What are the symptoms of Pancreatic and Cerebellar Agenesis?
How long does it take to get the PTF1A Gene NGS Genetic Test results?
Is Pancreatic and Cerebellar Agenesis hereditary?
Does DNA Labs India provide raw data and FASTQ files with the test report?
Is home sample collection available for the PTF1A Gene NGS Genetic Test?
Can the PTF1A Gene NGS Genetic Test be done during pregnancy?
What is the accuracy of the NGS Genetic Test for PTF1A gene mutations?
What should I do if the test results show a Variant of Uncertain Significance (VUS)?
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