TALDO1 Gene Transaldolase deficiency NGS Genetic Test
Short Name: Transaldolase Deficiency Genetic Test
Also known as: Transaldolase Deficiency Genetic Test, TALDO1 Mutation Analysis, NGS Test for Transaldolase Deficiency
TALDO1 Gene Transaldolase deficiency 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 available within 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
To identify pathogenic mutations in the TALDO1 gene for the diagnosis of transaldolase deficiency, enabling early intervention, management, and family planning.
- Test Code
- 2265
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available within 3 to 4 weeks.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling session is recommended to understand the test implications and draw a pedigree chart of affected family members.
Method: Venipuncture or Buccal Swab
Laboratory Analysis
Blood sample is drawn via venipuncture or a cheek swab is taken for DNA extraction.
Report Delivery
Sample is processed and analyzed in the laboratory using NGS technology.
Timeline: Reports are available within 3 to 4 weeks.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the TALDO1 gene for the diagnosis of transaldolase deficiency, enabling early intervention, management, and family planning.
How to Prepare
- Provide detailed clinical history of the patient
- Attend a genetic counseling session prior to testing
- Choose between blood sample or cheek swab collection
- Ensure sample is collected in appropriate containers (EDTA tube or FTA card)
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for TALDO1 mutations is crucial for confirming diagnosis and guiding treatment in suspected cases of transaldolase deficiency."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Samples with hemolysis or clot formation
- Incorrect sample type or container
- Insufficient sample volume
- Improper labeling or documentation
Understanding Your Results
Positive
Pathogenic variant detected, consistent with transaldolase deficiency. Consult a genetic specialist for management.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; further evaluation may be needed.
Variant of Uncertain Significance (VUS)
Genetic variant found, but its clinical significance is unknown. Repeat testing or family studies may be recommended.
If you experience symptoms such as jaundice, low blood sugar, developmental delays, or have a family history of metabolic disorders.
Limitations
- ⚠May not detect all possible mutations
- ⚠Variants of uncertain significance (VUS) may be reported
- ⚠Does not rule out other genetic disorders
Risks & Considerations
- ●Minimal risk from blood draw: bruising, soreness, or infection at puncture site
- ●Psychological impact of genetic results may require support
Interfering Factors
- ●Hemolyzed or contaminated samples
- ●Insufficient DNA quality or quantity
- ●Recent blood transfusion (may affect results)
Compare With Similar Tests
| Test | TALDO1 Gene Transaldolase deficiency NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing for TALDO1 | Metabolic Panel Testing |
|---|---|---|---|---|
| Comparison | TALDO1 Gene Transaldolase deficiency NGS Genetic Test |
Frequently Asked Questions
What is transaldolase deficiency?
What are the symptoms of TALDO1 gene mutation?
How is the TALDO1 gene test performed?
What is the cost of the TALDO1 gene test in India?
Is home sample collection available for this test?
How long does it take to get the results?
What does a positive test result mean?
Is the test painful?
Can this test be done during pregnancy?
What should I do before the test?
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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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