PTF1A Gene Pancreatic agenesis type 2 NGS Genetic Test
Short Name: PTF1A Gene NGS Test
Also known as: PTF1A Mutation Analysis, PTF1A Gene Sequencing Test, Pancreatic Agenesis Type 2 Genetic Panel, PTF1A NGS Panel, Congenital Pancreatic Agenesis Gene Test
PTF1A Gene Pancreatic agenesis type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (Confirmation), Bioinformatics Analysis, Copy Number Variant Analysis 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 sample receipt at the laboratory. Online report access is provided through the DNA Labs India portal.. 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 Pancreatic Agenesis Type 2 NGS Genetic Test is to provide a definitive molecular diagnosis for individuals suspected of having Pancreatic Agenesis Type 2. This test identifies pathogenic or likely pathogenic variants in the PTF1A gene using advanced Next Generation Sequencing (NGS) technology. A confirmed genetic diagnosis enables clinicians to initiate appropriate management strategies, including pancreatic enzyme replacement therapy, insulin therapy for neonatal diabetes, and nutritional supplementation for fat-soluble vitamin deficiencies. Additionally, this test supports genetic counselling for affected families by establishing the inheritance pattern (autosomal recessive), facilitating carrier identification in parents and at-risk family members, and informing reproductive planning. The test may also be used for prenatal or preimplantation genetic diagnosis in families with a known PTF1A mutation.
- Test Code
- 2204
- CPT Code
- 81405
- 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 sample receipt at the laboratory. Online report access is provided through the DNA Labs India portal.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing (Confirmation), Bioinformatics Analysis, Copy Number Variant Analysis
Sample Collection
No special preparation such as fasting is required. Ensure the patient or guardian has provided informed consent. A pre-test genetic counselling session is recommended to discuss the implications of the test. Provide the clinical history of the patient and a pedigree chart indicating family members affected with pancreatic agenesis type 2 or related metabolic disorders.
Method: Venipuncture / FTA Card Dried Blood Spot
Laboratory Analysis
A venous blood sample of 3-5 mL will be collected in an EDTA (lavender top) vacutainer by a trained phlebotomist. Alternatively, one drop of blood on an FTA card may be used. The sample will be labelled with the patient's details and stored at ambient room temperature until dispatch to the laboratory.
Report Delivery
The blood sample is transported to the DNA Labs India laboratory under controlled conditions. DNA extraction, library preparation, and NGS sequencing are performed by trained molecular genetics technicians. Bioinformatics analysis and variant interpretation are conducted by clinical geneticists. A detailed report is generated and made available within 3 to 4 weeks via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Online report access is provided through the DNA Labs India portal.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PTF1A Gene Pancreatic Agenesis Type 2 NGS Genetic Test is to provide a definitive molecular diagnosis for individuals suspected of having Pancreatic Agenesis Type 2. This test identifies pathogenic or likely pathogenic variants in the PTF1A gene using advanced Next Generation Sequencing (NGS) technology. A confirmed genetic diagnosis enables clinicians to initiate appropriate management strategies, including pancreatic enzyme replacement therapy, insulin therapy for neonatal diabetes, and nutritional supplementation for fat-soluble vitamin deficiencies. Additionally, this test supports genetic counselling for affected families by establishing the inheritance pattern (autosomal recessive), facilitating carrier identification in parents and at-risk family members, and informing reproductive planning. The test may also be used for prenatal or preimplantation genetic diagnosis in families with a known PTF1A mutation.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA (lavender top) vacutainer or use an FTA card with one drop of blood.
- Ensure proper labelling of the sample with patient name, date of birth, and unique identification number.
- Store the sample at ambient room temperature (15-30°C). Do not freeze.
- Transport the sample to the laboratory within 48 hours of collection.
- A genetic counselling session should be completed before or at the time of sample collection.
- Submit the patient's clinical history and a three-generation pedigree chart with the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"PTF1A Gene Pancreatic Agenesis Type 2 is a rare autosomal recessive condition caused by biallelic pathogenic variants in the PTF1A gene, which encodes a transcription factor critical for pancreatic and cerebellar development. Affected individuals typically present in the neonatal period with severe exocrine and endocrine pancreatic insufficiency, leading to neonatal diabetes mellitus, steatorrhea, failure to thrive, and fat-soluble vitamin deficiencies. Some individuals may also exhibit cerebellar hypoplasia or agenesis, resulting in ataxia and developmental delay. Early molecular confirmation through Next Generation Sequencing (NGS) allows for timely initiation of pancreatic enzyme replacement therapy, insulin management, and nutritional supplementation, significantly improving long-term outcomes. Genetic counselling is essential to inform family planning decisions and identify at-risk carriers. I strongly recommend this test for any infant or child presenting with unexplained neonatal diabetes, pancreatic insufficiency, or cerebellar anomalies suggestive of PTF1A-related disease."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed, clotted, or insufficient sample volume.
- Sample collected in incorrect anticoagulant (e.g., heparin tube instead of EDTA).
- Sample without proper labelling or identification.
- Sample contaminated or showing signs of bacterial/fungal growth.
- FTA card with more than one blood drop or improperly dried.
- Sample received without accompanying clinical history or consent form.
Understanding Your Results
Confirms a molecular diagnosis of PTF1A-associated Pancreatic Agenesis Type 2. Biallelic variants in the PTF1A gene are consistent with autosomal recessive inheritance. Initiating pancreatic enzyme replacement therapy, insulin management, and nutritional supplementation is recommended. Genetic counselling for the family is advised.
Clinical action: Initiate pancreatic enzyme replacement therapy (PERT), insulin therapy for diabetes management, and fat-soluble vitamin supplementation. Refer for genetic counselling.
The individual is a heterozygous carrier of a PTF1A pathogenic variant. Carriers are typically asymptomatic but have a 50% chance of passing the variant to each offspring. If both parents are carriers, there is a 25% risk of an affected child in each pregnancy.
Clinical action: Genetic counselling recommended for the family. Carrier testing of the partner is advised. Consider prenatal or preimplantation genetic diagnosis for future pregnancies.
A variant with insufficient evidence to classify as pathogenic or benign was detected. This result alone cannot confirm or exclude a diagnosis. Additional testing of parents and affected family members, functional studies, and clinical correlation are recommended.
Clinical action: Perform familial segregation analysis. Correlate with clinical phenotype. The VUS may be reclassified as new evidence becomes available. Follow-up testing is recommended.
No disease-causing variants were identified in the PTF1A gene. This result does not completely exclude Pancreatic Agenesis Type 2, as mutations in regulatory regions or other genes (e.g., GATA6, HNF1B) may cause similar phenotypes. Clinical correlation is essential.
Clinical action: Consider additional genetic testing for other genes associated with pancreatic agenesis or neonatal diabetes. Clinical follow-up and further diagnostic evaluation are recommended.
Consult a doctor or genetic specialist if: (1) your child has been diagnosed with neonatal diabetes or unexplained pancreatic insufficiency; (2) imaging reveals absence or severe underdevelopment of the pancreas; (3) there is a known family history of pancreatic agenesis or PTF1A mutations; (4) your child shows failure to thrive, steatorrhea, or unexplained fat-soluble vitamin deficiencies; (5) cerebellar anomalies are detected on brain imaging; or (6) you are planning a pregnancy and are a known carrier of a PTF1A variant.
Limitations
- ⚠This test targets the PTF1A gene specifically; mutations in other genes associated with pancreatic agenesis or neonatal diabetes will not be detected.
- ⚠Deep intronic variants, regulatory region mutations, and large structural rearrangements beyond the detection capability of the NGS pipeline may not be identified.
- ⚠Variants of Uncertain Significance (VUS) may be detected; clinical correlation and family studies are recommended for interpretation.
- ⚠Results do not replace clinical diagnosis and must be interpreted in the context of the patient's phenotype and family history.
- ⚠Mosaicism at low levels may not be reliably detected.
Risks & Considerations
- ●Minimal risk associated with blood draw: slight bruising, bleeding, or infection at the venipuncture site.
- ●Psychological impact of genetic diagnosis on the patient and family members, including anxiety related to diagnosis or carrier status.
- ●Risk of receiving results with Variants of Uncertain Significance (VUS) which may require additional investigation.
- ●Potential insurance or discrimination implications of genetic information (addressed under applicable genetic non-discrimination laws).
Interfering Factors
- ●Degraded or low-quality DNA extracted from improperly stored blood samples may affect sequencing quality.
- ●Heavily contaminated samples can produce inconclusive results requiring repeat collection.
- ●Recent blood transfusions within the past 4 weeks may interfere with interpretation of germline variants.
- ●Haematological malignancies with high white cell counts may affect allelic ratios.
Compare With Similar Tests
| Test | PTF1A Gene Pancreatic agenesis type 2 NGS Genetic Test | Sanger Sequencing of PTF1A Gene | Pancreatic Imaging (Ultrasound/MRI/CT) | Neonatal Diabetes Gene Panel (Multi-Gene) |
|---|---|---|---|---|
| Comparison | PTF1A Gene Pancreatic agenesis type 2 NGS Genetic Test | Sanger sequencing targets specific exons and is suitable for known familial mutations. NGS provides comprehensive coverage of the entire PTF1A gene including flanking intronic regions, enabling detection of novel variants with higher sensitivity. | Imaging can reveal anatomical absence or hypoplasia of the pancreas but cannot identify the underlying genetic cause. NGS genetic testing provides a definitive molecular diagnosis and enables carrier identification in family members. | A broader multi-gene panel covers multiple genes associated with neonatal diabetes (GCK, INS, KCNJ11, ABCC8, PTF1A, and others). The PTF1A-focused NGS test provides targeted, in-depth analysis when PTF1A-related disease is specifically suspected. |
Frequently Asked Questions
What is the PTF1A Gene Pancreatic Agenesis Type 2 NGS Genetic Test?
Who should get the PTF1A Gene NGS Genetic Test?
What is Pancreatic Agenesis Type 2 and how does it affect the body?
What sample is required for the PTF1A Gene NGS Genetic Test?
How much does the PTF1A Gene NGS Genetic Test cost in India?
How long does it take to get the PTF1A Gene NGS Genetic Test results?
What does a positive PTF1A Gene NGS Genetic Test result mean?
Can the PTF1A Gene NGS Genetic Test be done during pregnancy?
Is genetic counselling required before taking the PTF1A Gene NGS Genetic Test?
Does DNA Labs India offer free home sample collection for this test?
What is the difference between the PTF1A Gene NGS Test and a Pancreatic Agenesis Gene Panel?
Can a negative PTF1A Gene NGS Genetic Test rule out pancreatic agenesis?
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