Chromosome XON Microarray High Resolution Test
Short Name: XON Microarray HR
Also known as: XON Chromosomal Microarray, X Chromosome Microarray Analysis, Xon Array CGH, High Resolution X Chromosome Microarray
Chromosome XON Microarray High Resolution Test test available at DNA Labs India for ₹31,590. Uses Affymetrix CytoScan™ Xon Microarray, Chromosomal Microarray Analysis (CMA) on Whole Blood (EDTA) samples. Results in Sample accepted daily by 4:00 PM. Results are typically available within 25 working days from the date of sample receipt at the laboratory.. 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 primary purpose of the Chromosome XON Microarray High Resolution Test is to identify genetic abnormalities on the X chromosome that may be responsible for a range of clinical conditions. This test is indicated for individuals presenting with unexplained developmental delays, intellectual disability, autism spectrum features, dysmorphic features, or reproductive difficulties. It serves as a first-tier diagnostic investigation for suspected X-linked genetic disorders and can detect submicroscopic deletions and duplications that are not visible on conventional karyotype analysis. Additionally, the test can identify copy number neutral loss of heterozygosity (CN-LOH) and uniparental disomy (UPD) of the X chromosome, which may have clinical significance. The results of this test assist clinicians and genetic counsellors in establishing a definitive diagnosis, guiding treatment and management decisions, enabling genetic counselling for affected families, and informing reproductive planning.
- Test Code
- 312
- CPT Code
- 81229
- ICD Code
- Q99.9
- Price
- ₹31,590
- Sample Type
- Whole Blood (EDTA)
- Result Time
- Sample accepted daily by 4:00 PM. Results are typically available within 25 working days from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Affymetrix CytoScan™ Xon Microarray, Chromosomal Microarray Analysis (CMA)
Sample Collection
Ensure the Genomic Microarray Requisition Form (Form 19) is duly filled and signed by the referring physician. No fasting is required. Inform the healthcare provider about any recent blood transfusions or ongoing treatments. Avoid collecting the sample in a heparinised tube as heparin can interfere with microarray analysis.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 4 mL of whole blood (minimum 2 mL) via venipuncture into a lavender top (EDTA) tube. The tube should be gently inverted 8–10 times immediately after collection to ensure proper mixing with the anticoagulant. The sample must be labelled correctly with patient details.
Report Delivery
The blood sample must be stored and shipped refrigerated (2–8°C). Do not freeze the sample. The sample should reach the laboratory within 24 hours of collection for optimal DNA quality. The Genomic Microarray Requisition Form (Form 19) must accompany the sample at all times.
Timeline: Sample accepted daily by 4:00 PM. Results are typically available within 25 working days from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the Chromosome XON Microarray High Resolution Test is to identify genetic abnormalities on the X chromosome that may be responsible for a range of clinical conditions. This test is indicated for individuals presenting with unexplained developmental delays, intellectual disability, autism spectrum features, dysmorphic features, or reproductive difficulties. It serves as a first-tier diagnostic investigation for suspected X-linked genetic disorders and can detect submicroscopic deletions and duplications that are not visible on conventional karyotype analysis. Additionally, the test can identify copy number neutral loss of heterozygosity (CN-LOH) and uniparental disomy (UPD) of the X chromosome, which may have clinical significance. The results of this test assist clinicians and genetic counsellors in establishing a definitive diagnosis, guiding treatment and management decisions, enabling genetic counselling for affected families, and informing reproductive planning.
How to Prepare
- Collect 4 mL (2 mL minimum) of whole blood in a lavender top (EDTA) tube
- Gently invert the tube 8–10 times after collection
- Do not use heparinised tubes
- Ship the sample refrigerated (2–8°C); do not freeze
- Ensure the sample reaches the lab within 24 hours of collection
- Submit the duly filled Genomic Microarray Requisition Form (Form 19) with the sample
- Free home sample collection is available for online bookings across India
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"X chromosome abnormalities can present with a wide spectrum of clinical features, from mild learning difficulties to significant developmental delays and reproductive challenges. The Chromosome XON Microarray High Resolution Test provides a comprehensive, high-resolution analysis specifically targeting the X chromosome. I routinely recommend this test for patients with suspected X-linked conditions, unexplained developmental delays, or recurrent pregnancy losses. Early detection through microarray analysis enables timely genetic counselling and informed clinical management for the patient and their family."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparinised tube
- Sample received frozen
- Sample received more than 24 hours after collection without refrigeration
- Insufficient sample volume (less than 2 mL)
- Missing or incomplete Genomic Microarray Requisition Form (Form 19)
- Haemolysed or severely lipaemic samples
- Unlabelled or mislabelled sample
Understanding Your Results
Normal (No abnormalities detected)
No clinically significant copy number variations, aneuploidies, or loss of heterozygosity were identified on the X chromosome. This does not rule out all genetic conditions and clinical correlation is advised.
Pathogenic variant detected
A clinically significant deletion, duplication, or aneuploidy on the X chromosome has been identified. This finding correlates with a known genetic condition. Genetic counselling and further clinical evaluation are recommended.
Likely pathogenic variant detected
A copy number variation on the X chromosome has been identified that is likely to be clinically significant based on available evidence. Clinical correlation and family studies may be recommended.
Variant of Uncertain Significance (VUS)
A copy number variation on the X chromosome has been detected, but current evidence is insufficient to determine whether it is benign or pathogenic. Clinical follow-up and parental studies may help clarify significance.
Mosaicism detected
A mosaic pattern involving the X chromosome has been identified, indicating that only a proportion of cells carry the abnormality. The clinical significance depends on the level and type of mosaicism.
Consult your healthcare provider or a clinical geneticist if the test reveals any abnormality, including pathogenic variants, likely pathogenic variants, or variants of uncertain significance. Genetic counselling is also recommended before the test to understand its scope and implications, and after the test to interpret the results in the context of your clinical situation and family history.
Limitations
- ⚠This test analyses only the X chromosome and does not detect abnormalities on autosomes or the Y chromosome
- ⚠Balanced translocations and inversions affecting the X chromosome may not be detected
- ⚠Point mutations and small indels below the resolution of the microarray are not identified
- ⚠Results may be classified as variants of uncertain significance (VUS) requiring clinical correlation
- ⚠Mosaicism below approximately 10–20% may not be reliably detected
- ⚠This test does not replace sequencing-based approaches for single-gene disorders
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Rare risk of infection at the puncture site
- ●Possibility of receiving a result with uncertain clinical significance (VUS), which may cause anxiety
- ●A normal result does not guarantee absence of all genetic conditions
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Sample collected in incorrect anticoagulant (non-EDTA tube)
- ●Insufficient sample volume
- ●Extreme temperature exposure during transit (freezing or excessive heat)
- ●Recent blood transfusion within the past 4–6 weeks may affect results
Compare With Similar Tests
| Test | Chromosome XON Microarray High Resolution Test | Conventional Karyotyping | FISH (Fluorescence In Situ Hybridisation) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | Chromosome XON Microarray High Resolution Test |
Frequently Asked Questions
What is the Chromosome XON Microarray High Resolution Test?
Who should consider taking the Chromosome XON Microarray High Resolution Test?
What sample is required for this test?
Is fasting required before the Chromosome XON Microarray High Resolution Test?
How accurate is the Chromosome XON Microarray High Resolution Test?
How long does it take to receive the results?
What is the cost of the Chromosome XON Microarray High Resolution Test at DNA Labs India?
Can this test detect all X-linked genetic disorders?
What does a Variant of Uncertain Significance (VUS) result mean?
Is home sample collection available for this test?
Can this test be done during pregnancy?
What should I do if the test result is abnormal?
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