JAK3 Gene SCID autosomal recessive T negative B positive type NGS Genetic Test
Short Name: JAK3 SCID NGS Test
Also known as: JAK3 SCID Genetic Test, JAK3 Deficiency NGS Test, T-B+ SCID Genetic Test, JAK3 Gene Sequencing Test, Autosomal Recessive SCID JAK3 Panel
JAK3 Gene SCID autosomal recessive T negative B positive type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 JAK3 gene responsible for autosomal recessive Severe Combined Immunodeficiency with a T-negative, B-positive immunophenotype. The test aids in confirming a clinical diagnosis, guiding treatment decisions including haematopoietic stem cell transplantation, enabling carrier detection in family members, facilitating genetic counselling regarding recurrence risks, and supporting prenatal or preimplantation genetic diagnosis in at-risk families.
- Test Code
- 5620
- CPT Code
- 81479
- ICD Code
- D81.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline Analysis
Sample Collection
No special preparation such as fasting is required. A clinical history of the patient and a pedigree chart of family members affected with SCID should be prepared. A genetic counselling session is recommended prior to sample collection to discuss the implications of testing.
Method: Venipuncture
Laboratory Analysis
A peripheral blood sample of 3-5 mL is collected via venipuncture into an EDTA (lavender top) tube. For neonates, one drop of blood on an FTA card is also acceptable. The sample should be labelled correctly with patient identifiers.
Report Delivery
The sample is transported to the laboratory at ambient room temperature. Results are typically available within 3 to 4 weeks. A detailed genetic report with variant interpretation and clinical recommendations will be provided through the online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks
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 JAK3 gene responsible for autosomal recessive Severe Combined Immunodeficiency with a T-negative, B-positive immunophenotype. The test aids in confirming a clinical diagnosis, guiding treatment decisions including haematopoietic stem cell transplantation, enabling carrier detection in family members, facilitating genetic counselling regarding recurrence risks, and supporting prenatal or preimplantation genetic diagnosis in at-risk families.
How to Prepare
- Collect 3-5 mL peripheral blood in an EDTA (lavender top) tube under aseptic conditions
- For neonates, one drop of blood on an FTA card is acceptable
- Label the sample with full patient name, date of birth, and unique identification number
- Transport the sample at ambient room temperature; avoid extreme heat or cold
- Include a completed test requisition form with clinical history and family pedigree information
- If the patient has received a recent blood transfusion, note the date on the requisition form
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"JAK3-deficient SCID is one of the most common forms of autosomal recessive SCID. Early genetic diagnosis through NGS is critical because affected infants are highly susceptible to life-threatening infections from birth. Confirming a JAK3 mutation not only guides definitive treatment such as hematopoietic stem cell transplantation but also enables informed genetic counselling for families regarding recurrence risk. I recommend this test for any infant presenting with severe, recurrent, or opportunistic infections and laboratory evidence of T-cell lymphopenia with preserved B-cell numbers."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in a heparin tube instead of EDTA tube
- Haemolysed, clotted, or insufficient sample volume
- Sample without proper labelling or requisition form
- Sample collected post recent blood transfusion without documentation
- Sample received after stability period has expired
Understanding Your Results
Pathogenic or Likely Pathogenic variant detected (homozygous or compound heterozygous)
Confirms the diagnosis of JAK3-deficient Severe Combined Immunodeficiency. Immediate referral for haematopoietic stem cell transplantation evaluation and infection prophylaxis is recommended. Genetic counselling for the family regarding recurrence risk (25% for future pregnancies) is essential.
Single heterozygous pathogenic variant detected
The patient is a carrier of one JAK3 mutation. This alone does not cause SCID but indicates carrier status. If clinical suspicion remains high, testing for other SCID-associated genes or additional JAK3 analysis (e.g., for deletions) may be warranted. Parents should be offered carrier testing.
Variant of Uncertain Significance (VUS) detected
A variant was identified that cannot currently be classified as pathogenic or benign. Clinical correlation, family segregation studies, and functional data may be needed. The result should not be used alone for clinical decision-making. Follow-up with periodic reanalysis is recommended.
No pathogenic variant detected
No disease-causing mutations were identified in the JAK3 gene. This result does not exclude SCID, as mutations in other genes (IL2RG, RAG1, RAG2, ADA, IL7R, AK2, and others) can cause similar phenotypes. Further genetic evaluation with a broader SCID gene panel or whole exome sequencing may be considered.
Consult a qualified immunologist or geneticist if your infant presents with recurrent severe infections, chronic diarrhoea, failure to thrive, persistent skin rashes, or if newborn screening results are abnormal. Early consultation is critical, as JAK3-deficient SCID is a medical emergency requiring prompt intervention to prevent life-threatening infections.
Limitations
- ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic mutations outside the targeted regions
- ⚠Variants of Uncertain Significance (VUS) may be identified that cannot be definitively classified as pathogenic or benign at the time of reporting
- ⚠A negative result does not completely exclude SCID, as mutations in other genes (IL2RG, RAG1, RAG2, ADA, etc.) can cause similar phenotypes
- ⚠Mosaicism at low levels may not be reliably detected
- ⚠This test is not validated for prenatal or preimplantation genetic diagnosis without prior confirmation of familial variants
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the blood draw site
- ●Psychological impact of genetic diagnosis on the patient and family
- ●Possibility of identifying Variants of Uncertain Significance (VUS) that may cause anxiety
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing coverage and accuracy
- ●Recent blood transfusion within the past four weeks may lead to mixed DNA profiles
- ●Haematopoietic stem cell transplant recipients will have donor DNA, which may not reflect the patient's germline genotype
- ●Sample contamination during collection or transport may produce unreliable results
Compare With Similar Tests
| Test | JAK3 Gene SCID autosomal recessive T negative B positive type NGS Genetic Test | IL2RG Gene SCID NGS Genetic Test | ADA Gene SCID NGS Genetic Test | RAG1/RAG2 Gene SCID NGS Genetic Test |
|---|---|---|---|---|
| Comparison | JAK3 Gene SCID autosomal recessive T negative B positive type NGS Genetic Test |
Frequently Asked Questions
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