PTPN14 Gene Choanal atresia and lymphedema NGS Genetic Test
Short Name: PTPN14 Gene NGS Test
Also known as: PTPN14 Mutation Analysis, PTPN14 NGS Sequencing, Choanal Atresia Genetic Panel, Lymphedema Gene Test, PTPN14 Next Generation Sequencing
PTPN14 Gene Choanal atresia and lymphedema NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation (if required) 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. In certain complex cases requiring additional confirmation by Sanger sequencing or family segregation studies, the turnaround time may be slightly extended. Patients will be notified when their results are ready and can access them through the DNA Labs India online portal, email, or 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 PTPN14 Gene Choanal Atresia and Lymphedema NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PTPN14 gene that are responsible for Choanal Atresia and/or Lymphedema. This test enables accurate molecular diagnosis, facilitates genetic counselling for affected individuals and their families, supports informed reproductive decision-making, and guides clinical management. It is particularly valuable for confirming a clinical diagnosis, evaluating carrier status in family members, and aiding prenatal or preconception planning when there is a known family history of PTPN14-related disorders.
- Test Code
- 2381
- CPT Code
- 81479
- ICD Code
- Q30.0, Q82.0
- 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. In certain complex cases requiring additional confirmation by Sanger sequencing or family segregation studies, the turnaround time may be slightly extended. Patients will be notified when their results are ready and can access them through the DNA Labs India online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation (if required)
Sample Collection
A genetic counselling session is recommended prior to sample collection to draw a detailed pedigree chart of family members. The clinical history of the patient, including onset of symptoms, family history, prior imaging results, and any previous genetic testing, should be documented. No fasting is required. Ensure proper identification and consent documentation.
Method: Venipuncture or finger-prick (FTA Card)
Laboratory Analysis
A 3 to 5 mL peripheral blood sample is collected via venipuncture into an EDTA (Lavender Top) tube. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample should be clearly labelled with patient details, date, and time of collection. Maintain aseptic technique throughout the collection process.
Report Delivery
The blood sample should be stored at ambient room temperature and transported to the laboratory within 48 hours of collection. FTA cards should be air-dried before packaging. Do not freeze the blood sample. The laboratory will perform DNA extraction, library preparation, and NGS sequencing. Results are typically available within 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. In certain complex cases requiring additional confirmation by Sanger sequencing or family segregation studies, the turnaround time may be slightly extended. Patients will be notified when their results are ready and can access them through the DNA Labs India online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PTPN14 Gene Choanal Atresia and Lymphedema NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PTPN14 gene that are responsible for Choanal Atresia and/or Lymphedema. This test enables accurate molecular diagnosis, facilitates genetic counselling for affected individuals and their families, supports informed reproductive decision-making, and guides clinical management. It is particularly valuable for confirming a clinical diagnosis, evaluating carrier status in family members, and aiding prenatal or preconception planning when there is a known family history of PTPN14-related disorders.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) tube under aseptic conditions
- Alternatively, use an FTA card with one drop of blood or submit previously extracted DNA
- Label the sample clearly with the patient's full name, date of birth, date and time of collection
- Do not freeze the blood sample; store at ambient room temperature (15-30°C)
- Transport the sample to the laboratory within 48 hours of collection
- Ensure genetic counselling consent form is completed and signed before sample collection
- Include detailed clinical history and pedigree chart with the sample requisition form
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"PTPN14 gene mutations should be suspected when prenatal ultrasound reveals bilateral choanal atresia or when a newborn presents with nasal obstruction and limb swelling. Early genetic confirmation through NGS testing allows for timely surgical planning for choanal atresia repair and initiation of lymphedema management. Referral for this test is recommended when there is a family history of lymphatic malformations or congenital nasal obstruction, or when standard ENT evaluation identifies choanal atresia with associated peripheral edema."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or requisition form
- Haemolyzed or clotted blood sample in EDTA tube
- Sample collected in incorrect anticoagulant (e.g., heparin tube)
- Insufficient sample volume (less than 2 mL blood)
- Sample contaminated or improperly stored (frozen whole blood)
- Sample received more than 48 hours after collection without prior arrangements
- Signed consent form or genetic counselling documentation missing
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the PTPN14 gene has been identified. This confirms the molecular diagnosis of PTPN14-related Choanal Atresia and/or Lymphedema. Clinical management, surgical planning for choanal atresia, lymphedema therapy, and genetic counselling for the family are recommended.
Clinical action: Refer to clinical genetics for comprehensive evaluation, ENT for choanal assessment, and lymphology specialist for lymphedema management. Offer carrier testing to family members.
Likely Pathogenic Variant Detected
A variant with strong evidence supporting disease causation has been found. While not definitively confirmed as pathogenic, available evidence strongly supports clinical significance. Correlation with clinical findings is advised.
Clinical action: Discuss findings with the patient and family. Consider additional functional studies or segregation analysis. Initiate clinical management as appropriate.
Variant of Uncertain Significance (VUS)
A genetic variant has been identified, but there is insufficient evidence to determine whether it causes disease. This result should not be used alone for clinical decision-making.
Clinical action: Recommend family segregation studies. Re-evaluate periodically as new evidence becomes available. Continue clinical monitoring based on symptoms.
Likely Benign Variant
A variant has been detected that is unlikely to be associated with disease based on available evidence.
Clinical action: No specific clinical action required for this variant. Continue standard clinical follow-up as needed.
No Pathogenic Variant Detected (Negative)
No disease-causing mutations were identified in the PTPN14 gene. This result does not completely exclude a genetic etiology, as mutations in other genes may cause similar clinical presentations.
Clinical action: Consider expanded gene panel testing or whole-exome sequencing if clinical suspicion remains high. Provide genetic counselling regarding recurrence risk and further evaluation options.
Consult a genetic specialist or your referring physician if: your test reveals a pathogenic or likely pathogenic variant; you receive a Variant of Uncertain Significance (VUS) result and need guidance on next steps; you or your child are newly diagnosed with choanal atresia, lymphedema, or both; you are planning a pregnancy and have a family history of PTPN14-related conditions; you need guidance on treatment options including surgical intervention for choanal atresia or lymphedema management; or if a negative result does not explain your symptoms and further testing is warranted.
Limitations
- ⚠This test does not detect large structural rearrangements beyond the scope of the NGS panel
- ⚠Deep intronic mutations outside the targeted sequencing region will not be identified
- ⚠Results may include Variants of Uncertain Significance (VUS) that require further clinical correlation
- ⚠Somatic mosaicism at low levels may not be detected
- ⚠A negative result does not completely exclude a genetic basis for the patient's condition as other genes may be involved
- ⚠This test is not a substitute for comprehensive clinical evaluation and imaging studies
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very slight risk of infection at the blood draw site
- ●Psychological impact of receiving genetic diagnosis information
- ●Potential identification of Variants of Uncertain Significance that may cause anxiety
- ●Risk of incidental findings in genes beyond PTPN14 if broader analysis is performed
Interfering Factors
- ●Degraded or insufficient DNA quality in the submitted sample
- ●Recent blood transfusion within the past 30 days may affect results if using blood samples
- ●Contamination during sample collection or transport
- ●Concurrent use of certain immunosuppressive medications may affect DNA extraction yield in rare cases
Compare With Similar Tests
| Test | PTPN14 Gene Choanal atresia and lymphedema NGS Genetic Test | Sanger Sequencing of PTPN14 Gene | Chromosomal Microarray Analysis (CMA) | Whole Exome Sequencing (WES) | Lymphedema Gene Panel (Multi-gene) |
|---|---|---|---|---|---|
| Comparison | PTPN14 Gene Choanal atresia and lymphedema NGS Genetic Test |
Frequently Asked Questions
What is the PTPN14 Gene Choanal Atresia and Lymphedema NGS Genetic Test?
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What sample type is required for this genetic test?
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Who should get the PTPN14 Gene NGS Genetic Test?
What are Choanal Atresia and Lymphedema?
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