SALL4 Gene IVIC syndrome NGS Genetic Test
Short Name: SALL4 NGS
Also known as: SALL4 Gene Sequencing, IVIC Syndrome Genetic Test, SALL4 NGS Panel
SALL4 Gene IVIC syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of the SALL4 Gene IVIC syndrome NGS genetic test is to confirm a clinical diagnosis of IVIC syndrome by identifying pathogenic variants in the SALL4 gene. It is also used for predictive testing in at-risk family members, carrier testing, and prenatal diagnosis in families with a known mutation. The test aids in differentiating IVIC syndrome from other conditions with overlapping features, such as Okihiro syndrome or acro-renal-ocular syndrome, which are also caused by SALL4 mutations. Accurate genetic diagnosis is essential for providing appropriate medical management, including cardiac evaluation, limb anomaly care, and developmental support. Additionally, the test facilitates genetic counseling, enabling families to understand the inheritance pattern and recurrence risks.
- Test Code
- 5801
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by venipuncture or fingerstick onto FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis.
Timeline: Reports are delivered within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the SALL4 Gene IVIC syndrome NGS genetic test is to confirm a clinical diagnosis of IVIC syndrome by identifying pathogenic variants in the SALL4 gene. It is also used for predictive testing in at-risk family members, carrier testing, and prenatal diagnosis in families with a known mutation. The test aids in differentiating IVIC syndrome from other conditions with overlapping features, such as Okihiro syndrome or acro-renal-ocular syndrome, which are also caused by SALL4 mutations. Accurate genetic diagnosis is essential for providing appropriate medical management, including cardiac evaluation, limb anomaly care, and developmental support. Additionally, the test facilitates genetic counseling, enabling families to understand the inheritance pattern and recurrence risks.
How to Prepare
- For blood sample: Use EDTA tube, fill to indicated mark, mix gently.
- For FTA card: Apply one drop of blood onto each circle, air dry for 30 minutes.
- Label the sample with patient name, date of birth, and collection date.
- Transport at ambient temperature; avoid extreme heat or cold.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"IVIC syndrome is a rare autosomal dominant disorder. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
- FTA card with insufficient blood spots
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of IVIC syndrome. Genetic counseling recommended for family planning.
Likely pathogenic variant detected
High likelihood of disease; clinical correlation advised.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Further testing may be needed.
No pathogenic variant detected
SALL4-related IVIC syndrome is unlikely. Consider other genetic causes.
Consult a clinical geneticist or pediatrician if your child exhibits features suggestive of IVIC syndrome, such as facial dysmorphism, heart defects, limb anomalies, or developmental delay. Early diagnosis can guide management and family counseling.
Limitations
- ⚠This test detects mutations in the SALL4 gene only; other genes may cause similar phenotypes.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess non-coding regulatory regions.
- ⚠Results should be interpreted in the context of clinical findings.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | SALL4 Gene IVIC syndrome NGS Genetic Test | SALL4 Gene Sequencing (Sanger) | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | SALL4 Gene IVIC syndrome NGS Genetic Test |
Frequently Asked Questions
What is IVIC syndrome?
How is the SALL4 gene test performed?
What is the cost of the SALL4 gene test?
How long does it take to get results?
Is fasting required for this test?
Can this test be done on children?
What sample types are accepted?
Is home sample collection available?
What does a positive result mean?
What if the result is negative?
Will insurance cover this test?
How do I book this test?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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