HOXA13 Gene Guttmacher syndrome NGS Genetic Test
Short Name: HOXA13 Gene Test
Also known as: Guttmacher Syndrome, HOXA13-related limb malformation syndrome
HOXA13 Gene Guttmacher 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 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 the HOXA13 Gene Guttmacher Syndrome NGS Genetic Test is to accurately detect mutations in the HOXA13 gene for the diagnosis of Guttmacher Syndrome. This test aids in confirming clinical suspicions, differentiating from other limb malformation disorders, and providing information for genetic counseling, family planning, and personalized medical care.
- Test Code
- 5528
- 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)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Guttmacher Syndrome are required before sample collection.
Method: Venipuncture
Laboratory Analysis
A small blood sample is collected via venipuncture, or a drop of blood on an FTA card is used. The procedure is quick and minimally invasive.
Report Delivery
The sample is processed in the laboratory for DNA extraction and NGS analysis. Patients can resume normal activities immediately after collection.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the HOXA13 Gene Guttmacher Syndrome NGS Genetic Test is to accurately detect mutations in the HOXA13 gene for the diagnosis of Guttmacher Syndrome. This test aids in confirming clinical suspicions, differentiating from other limb malformation disorders, and providing information for genetic counseling, family planning, and personalized medical care.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile collection tubes or FTA cards
- Transport samples at ambient room temperature unless specified otherwise
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for HOXA13 mutations is crucial for confirming Guttmacher Syndrome, enabling early intervention and family planning counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled or contaminated samples
Understanding Your Results
Confirms diagnosis of Guttmacher Syndrome. Genetic counseling and management plans should be initiated.
Result type: Positive for pathogenic variant
No mutations detected in the HOXA13 gene. Clinical correlation is advised if symptoms persist.
Result type: Negative for pathogenic variant
A variant was found but its clinical significance is unknown. Further testing or family studies may be recommended.
Result type: Variant of uncertain significance (VUS)
Consult a genetic specialist or healthcare provider if you experience symptoms of limb malformations, have a family history of Guttmacher Syndrome, or receive a positive or VUS result from this test.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Results require correlation with clinical findings for accurate diagnosis
- ⚠Variants of uncertain significance (VUS) may be identified, necessitating further evaluation
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very low risk of infection
- ●Psychological impact of genetic results may require support
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Recent blood transfusions may affect results
Frequently Asked Questions
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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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