ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test
Short Name: ITGB4 Gene EB-PA NGS Test
Also known as: ITGB4 Gene Sequencing Test, Junctional Epidermolysis Bullosa Genetic Test, EB-PA NGS Genetic Test, ITGB4 Mutation Analysis, Integrin Beta-4 Gene Test
ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis and Variant Calling 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. Results can be accessed through the DNA Labs India online portal, sent via email, or delivered via 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 this test is to identify pathogenic or likely pathogenic mutations in the ITGB4 gene responsible for epidermolysis bullosa junctionalis with pyloric atresia. This test aids in confirming a clinical diagnosis, differentiating EB-PA from other subtypes of epidermolysis bullosa, guiding treatment and surgical decisions, enabling carrier detection in family members, facilitating informed genetic counselling for recurrence risk assessment, and supporting prenatal or preconception genetic planning.
- Test Code
- 2401
- CPT Code
- 81479
- ICD Code
- Q81.2
- 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. Results can be accessed through the DNA Labs India online portal, sent via email, or delivered via WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis and Variant Calling
Sample Collection
A genetic counselling session is recommended prior to testing to document the clinical history of the patient and to draw a pedigree chart of family members affected with epidermolysis bullosa. No fasting is required. Inform the laboratory of any recent blood transfusions. Ensure the referring clinician provides a complete clinical summary including onset, severity, and distribution of blistering, and any gastrointestinal symptoms.
Method: Venipuncture or FTA Card Finger Prick
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) tube under aseptic conditions. Alternatively, a single drop of blood may be spotted on an FTA card. For extracted DNA samples, ensure the DNA is shipped on dry ice with appropriate documentation. Home sample collection is available across India at no additional charge.
Report Delivery
Label the sample correctly with the patient's details. Store at ambient room temperature if using an FTA card or ship the EDTA blood sample within 24 hours of collection at 2-8°C. Do not freeze whole blood samples. Results will be available within 3 to 4 weeks through the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. Results can be accessed through the DNA Labs India online portal, sent via email, or delivered via WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ITGB4 gene responsible for epidermolysis bullosa junctionalis with pyloric atresia. This test aids in confirming a clinical diagnosis, differentiating EB-PA from other subtypes of epidermolysis bullosa, guiding treatment and surgical decisions, enabling carrier detection in family members, facilitating informed genetic counselling for recurrence risk assessment, and supporting prenatal or preconception genetic planning.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA (lavender top) tube under aseptic technique
- Alternatively, spot one drop of blood on an FTA card and allow it to dry completely
- For extracted DNA, provide a minimum of 1-2 µg of DNA at a concentration of 50 ng/µL or higher
- Label the sample with full patient name, date of birth, and unique sample ID
- Store EDTA blood at 2-8°C and transport within 24 hours of collection
- Do not freeze whole blood samples
- Ship extracted DNA on dry ice with an ice pack
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Epidermolysis bullosa junctionalis with pyloric atresia is a severe, often life-threatening condition that presents at birth. Early genetic confirmation through ITGB4 gene testing is critical for guiding surgical management of pyloric atresia, planning long-term dermatological care, and offering accurate genetic counselling to families. I recommend this NGS test for any newborn presenting with widespread blistering and gastrointestinal obstruction when junctional EB is suspected."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labelling
- Haemolysed, clotted, or insufficient volume of EDTA blood
- Degraded DNA with A260/A280 ratio below 1.7 or above 2.0
- Sample received in a non-EDTA anticoagulant tube
- FTA card not properly dried or contaminated
- Sample collected more than 72 hours ago without refrigeration
Understanding Your Results
Confirms diagnosis of ITGB4-related epidermolysis bullosa junctionalis with pyloric atresia. Genetic counselling and multidisciplinary management are recommended.
Individual is a carrier of ITGB4-related EB-PA. May indicate the need for additional testing (e.g., deletion/duplication analysis) or testing of parents.
Clinical significance cannot be determined at this time. Additional family studies, functional assays, and clinical correlation are recommended. Follow-up reassessment is advised.
ITGB4-related EB-PA is unlikely based on this analysis. Consider testing for other genes associated with epidermolysis bullosa such as LAMB3, LAMC2, LAMA3, COL17A1, or PLEC. Clinical and histopathological reassessment is recommended.
Consult your doctor or genetic counsellor if your child is born with widespread skin blistering, poor weight gain, feeding difficulties, or signs of gastrointestinal obstruction. If there is a family history of epidermolysis bullosa or pyloric atresia, seek genetic counselling before conception or during early pregnancy. If your test results identify a variant of uncertain significance, schedule a follow-up consultation to discuss implications and next steps.
Limitations
- ⚠This test analyses only the ITGB4 gene; mutations in other genes associated with epidermolysis bullosa (e.g., LAMB3, LAMC2, LAMA3, COL17A1) are not covered
- ⚠Deep intronic mutations and regulatory region variants may not be detected
- ⚠Variants of uncertain significance (VUS) cannot definitively confirm or exclude disease
- ⚠This test does not detect trinucleotide repeat expansions or balanced chromosomal rearrangements
- ⚠Genotype-phenotype correlation may not always be straightforward
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Emotional impact of genetic diagnosis on the patient and family
- ●Identification of variants of uncertain significance may cause anxiety
- ●Incidental carrier status findings relevant to family planning
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing coverage
- ●Recent blood transfusion within 4 weeks may affect results
- ●Sample contamination during collection or transport
- ●Mosaicism may not be fully detectable at standard sequencing depth
Compare With Similar Tests
| Test | ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test | Skin Biopsy with Immunofluorescence Mapping | Sanger Sequencing of ITGB4 Gene | Whole Exome Sequencing (WES) | Electron Microscopy of Skin Biopsy |
|---|---|---|---|---|---|
| Comparison | ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test |
Frequently Asked Questions
What is the ITGB4 Gene Epidermolysis Bullosa Junctionalis with Pyloric Atresia NGS Genetic Test?
Who should get this ITGB4 Gene EB-PA NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
What is the cost of the ITGB4 Gene EB-PA NGS Genetic Test?
Is home sample collection available for this test?
What is epidermolysis bullosa junctionalis with pyloric atresia (EB-PA)?
How is EB-PA different from other types of epidermolysis bullosa?
What do the raw data files (FASTQ and VCF) include?
Can this test be used for prenatal diagnosis?
What happens if a variant of uncertain significance (VUS) is found?
Does DNA Labs India share raw data and sequencing files with patients?
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