High Resolution microarray panels which screens for submicroscopic chromosomal changes in DNA with whole genome coverage.
Optimized molecular cytogenetics assay for prenatal and miscarriage samples
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Probe Density - 315K
Detection Range - Upto 500 Kb for gains and losses
Recommended for following Cases-
• IVF
• RPL
• Pediatric (when confirming a syndrome)
• USG finding
• Confirming a positive NIPT finding
Whole Genome coverage without compromise on delivering excellence in specificity, sensitivity and resolution.
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Probe Density - 750 K
Detection range - Upto 100 Kb for gains and losses
Recommended for following cases
• Autism
• Ideopathic pediatric disorders
• USG finding
• DD
• ID
• family history of disorders
• USG finding
The unrivaled standard in cytogenetics with superior resolution for whole genome analysis for research studies!
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Probe Density 2.67 Million
Detection range Upto 25 Kb for gains and losses
Recommended for following cases
• Autism
• Ideopathic pediatric disorders
• USG finding
• DD
• ID
• family history of disorders
• USG finding
Information about Submicroscopic Chromosomal Genetic Changes in DNA, which might not be picked up by routine techniques such as FISH and Karyotyping.
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• Whole Genome information through ACMG and ACOG recommended First Line Genetic Tests for Postnatal and prenatal screening respectively.
• Greater Diagnostic yield (20-25%) over traditional chromosomal analysis with Karyotyping / FISH (3-5%)
• Fast TAT to report with whole genome information in 8-10 working days.
| Test | SNP/CNV | Probe Density | Detection range | Recommended for following cases |
| CytoSure | vv | 750K | Upto 100 Kb for gains and losses | Autism,Ideopathic pediatric disorders,USG finding,DD,ID,family history of disorders,USG finding |
| CytoPerfect | vv | 2.67 Million | Upto 25 Kb for gains and losses | Autism,Ideopathic pediatric disorders,USG finding,DD,ID,family history of disorders,USG finding |
| Test | SNP/CNV | Probe Density | Detection | Recommended for following cases |
| CytoPrime | √√ | 315K | Upto 500 Kb for gains and losses | IVF,RPL,Pediatric (when confirming a syndrome),USG finding,Confirming a positive NIPT finding |
| CytoSure | √√ | 750K | Upto 100 Kb for gains and losses | Autism,Ideopathic pediatric disorders,USG finding,DD,ID,family history of disorders,USG finding |
| CytoPerfect | √√ | 2.67 Million | Upto 25 Kb for gains and losses | Autism,Ideopathic pediatric disorders,USG finding,DD,ID,family history of disorders,USG finding |
| FEATURES | KARYOTYPE | FISH/QF-PCR | CMA |
| Coverage | Whole Genome | Probe Specific | Whole Genome |
| Resolution | >5 Mb | >100 Kb | >100 Kb |
| Live Cells | Required | Not Required | Not required |
| MCC pick up | No | No | Yes |
| Failure Rate | 30-40% due to culture failure/ contamination | No | Very Rare |
| Balanced Translocation | Yes | Yes | No |
| Unbalanced Translocation | Yes | Yes | Yes |
| Gain/Loss | Yes | Yes | Yes |
| Micro-deletion/ | Yes | Yes | Yes |
| Duplication | Yes | Yes | Yes |
| Mosaicism | Yes | Yes | Yes |
| Triploidy | Yes | Yes | Yes |
| Additional Information | Yes | Yes | Yes |
| Developmental delay (DD) | |
| (Recommended as First Line Test by ACMG) | Autism |
| Intellectual disability (ID) | |
| Micro-deletion and Micro-duplication syndromes | Prader-Willi/Angelman syndrome |
| Wolf-Hirschhorn syndrome | |
| Williams – Beuren syndrome | |
| DiGeorge Syndrome | |
| Smith-Magenis Syndrome/Potocki -- Lupski Syndrome | |
| Ultrasound Abnormalities –Recommended as first line test by ACOG | Absent nasal bone |
| Increased NT | |
| Ventriculomegaly | |
| Polydactyly | |
| Syndactyly | |
| Repeated Pregnancy Loss (RPL) | Couples CMA analysis |
| POC analysis | |
| Others | Uniparental Disomy (UPD) and Loss of heterozygosity (LOH) |
| Low level mosaicism | |
| Trisomy/Triploidy |
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Accurate Reporting
Fast TAT
Stringent QC
