SALL1 Gene Townes-Brocks syndrome NGS Genetic Test
Short Name: SALL1 NGS
Also known as: SALL1 Gene Sequencing, Townes-Brocks Syndrome Genetic Test, SALL1 Mutation Analysis
SALL1 Gene Townes-Brocks 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 after the sample reaches the laboratory. The turnaround time may vary depending on the complexity of the variant and the need for additional testing.. 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 SALL1 Gene NGS Genetic Test is to confirm a clinical diagnosis of Townes-Brocks Syndrome by identifying pathogenic variants in the SALL1 gene. It also aids in carrier detection, prenatal diagnosis, and genetic counseling for affected families. The test helps differentiate TBS from other syndromes with overlapping features, such as Goldenhar syndrome or VACTERL association, guiding appropriate medical management and surveillance.
- Test Code
- 5964
- 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 after the sample reaches the laboratory. The turnaround time may vary depending on the complexity of the variant and the need for additional testing.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the purpose, risks, and benefits of testing. Patients should bring any relevant medical records and family history information.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a fingerstick blood drop is applied to the card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. Patients can resume normal activities immediately. The sample is transported to the laboratory under controlled conditions.
Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory. The turnaround time may vary depending on the complexity of the variant and the need for additional testing.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the SALL1 Gene NGS Genetic Test is to confirm a clinical diagnosis of Townes-Brocks Syndrome by identifying pathogenic variants in the SALL1 gene. It also aids in carrier detection, prenatal diagnosis, and genetic counseling for affected families. The test helps differentiate TBS from other syndromes with overlapping features, such as Goldenhar syndrome or VACTERL association, guiding appropriate medical management and surveillance.
How to Prepare
- Ensure the patient's identity is verified before sample collection
- Use EDTA vacutainer for blood collection; mix gently to prevent clotting
- For FTA card, apply blood drop to the designated circles and air dry
- Label the sample with patient's name, date of birth, and collection date
- Transport the sample to the laboratory within 24-48 hours at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Townes-Brocks syndrome is crucial for accurate diagnosis and family planning. The SALL1 gene NGS test provides high sensitivity for detecting pathogenic variants."
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 Townes-Brocks Syndrome. Genetic counseling and family screening recommended.
Likely pathogenic variant detected
Highly suggestive of disease; further evidence may be needed. Clinical correlation advised.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional testing or family studies may be required.
No pathogenic variants detected
Does not rule out Townes-Brocks Syndrome. Consider other genetic causes or alternative testing.
If you or your child have symptoms suggestive of Townes-Brocks Syndrome, such as anal anomalies, ear malformations, hearing loss, or kidney abnormalities, consult a clinical geneticist or pediatrician. Genetic testing can provide a definitive diagnosis and guide management.
Limitations
- ⚠This test does not detect large deletions/duplications unless CNV analysis is included
- ⚠Variants in deep intronic regions or regulatory elements may be missed
- ⚠Mosaic variants may not be detected at low allele fractions
- ⚠Results should be interpreted in the context of clinical findings and family history
- ⚠Genetic counseling is recommended for all patients undergoing this test
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for variants of uncertain significance causing anxiety
- ●Insurance or employment discrimination concerns (mitigated by legal protections)
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Insufficient sample quantity
- ●Maternal cell contamination in prenatal samples
- ●Presence of large genomic rearrangements not detected by standard NGS
- ●Variants in non-coding regulatory regions not covered by the test
Compare With Similar Tests
| Test | SALL1 Gene Townes-Brocks syndrome NGS Genetic Test | SALL1 Gene Sequencing (Sanger) | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | SALL1 Gene Townes-Brocks syndrome NGS Genetic Test |
Frequently Asked Questions
What is Townes-Brocks Syndrome?
How is the SALL1 gene test performed?
What is the cost of the SALL1 gene NGS test?
How long does it take to get results?
Is fasting required before the test?
What sample types are accepted?
Can this test be done during pregnancy?
What does a negative result mean?
Will insurance cover the cost?
Is genetic counseling included?
Can the test detect all types of SALL1 mutations?
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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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