ANKRD11 Gene KBG syndrome NGS Genetic Test
Short Name: ANKRD11 NGS
Also known as: ANKRD11 Gene Mutation Test, KBG Syndrome Genetic Test, ANKRD11 Sequencing
ANKRD11 Gene KBG 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 typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. 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 ANKRD11 Gene KBG Syndrome NGS Genetic Test is to confirm or rule out a diagnosis of KBG syndrome in individuals presenting with suggestive clinical features. It also helps in identifying carriers, providing reproductive risk assessment, and enabling early intervention and management. Genetic testing is essential for differentiating KBG syndrome from other overlapping genetic disorders, thereby guiding appropriate medical care and family planning.
- Test Code
- 5812
- CPT Code
- 81407
- ICD Code
- Q87.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
- 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. Please provide a detailed clinical history and family pedigree.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick blood spot is collected. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You may resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the ANKRD11 Gene KBG Syndrome NGS Genetic Test is to confirm or rule out a diagnosis of KBG syndrome in individuals presenting with suggestive clinical features. It also helps in identifying carriers, providing reproductive risk assessment, and enabling early intervention and management. Genetic testing is essential for differentiating KBG syndrome from other overlapping genetic disorders, thereby guiding appropriate medical care and family planning.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- For blood sample, use EDTA vacutainer and mix gently.
- For FTA card, apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient name, date, and unique ID.
- Transport the sample at ambient temperature to the laboratory within 24-48 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"KBG syndrome is a rare genetic disorder with variable expressivity. Early diagnosis through NGS testing can significantly improve management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the diagnosis of KBG syndrome. Genetic counseling and family screening are recommended.
Negative (No pathogenic variant detected)
Does not rule out KBG syndrome; other genetic causes may be considered. Clinical correlation is essential.
Variant of Uncertain Significance (VUS)
A variant with unknown clinical significance. Further testing of family members may help clarify pathogenicity.
If you or your child have symptoms suggestive of KBG syndrome, such as developmental delays, intellectual disability, distinctive facial features, or skeletal anomalies, consult a clinical geneticist or pediatrician for evaluation and genetic testing.
Limitations
- ⚠This test detects mutations in the coding regions and splice sites of the ANKRD11 gene; it may not detect deep intronic variants or large genomic rearrangements.
- ⚠Variant of uncertain significance (VUS) may be reported; further familial testing may be needed.
- ⚠Negative result does not completely exclude KBG syndrome if clinical suspicion is high; other genetic causes should be considered.
- ⚠Genetic counseling is recommended to interpret results in the context of family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination during sample collection
- ●Incomplete clinical information may affect interpretation
- ●Presence of large deletions/duplications not detected by standard NGS (requires additional testing)
Compare With Similar Tests
| Test | ANKRD11 Gene KBG syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | ANKRD11 Gene KBG syndrome NGS Genetic Test | CMA detects copy number variations (deletions/duplications) across the genome, but does not detect single nucleotide variants in ANKRD11. NGS is more suitable for point mutations. | WES analyzes all coding regions of genes, including ANKRD11, but is more expensive and time-consuming. Targeted NGS is cost-effective for specific gene analysis. | Sanger sequencing is the gold standard for single-gene confirmation but is less efficient for large genes. NGS offers higher throughput and can detect mosaicism. |
Frequently Asked Questions
What is the cost of the ANKRD11 Gene KBG syndrome NGS genetic test in India?
What sample is required for the ANKRD11 gene test?
How long does it take to get the results?
Is fasting required before the test?
What is KBG syndrome?
Who should consider this test?
Is genetic counseling provided with the test?
Can this test detect all types of ANKRD11 mutations?
What does a negative result mean?
Is home sample collection available?
What is the CPT code for this test?
How accurate is the NGS technology used?
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