| Purpose | The NIFTY® Test Pro offers screening for All chromosomal numeric aneuploidies and 84 kinds of microdeletion/duplication syndromes;- Trisomy 21
- Trisomy 18
- Trisomy 13
- Trisomy 9
- Trisomy 16
- Trisomy 22
- Monosomy X (Turner Syndrome)
- XXY (Klinefelter Syndrome)
- XXX (Triple-X)
- XYY (Jacobs Syndrome)
- Y Chromosome detection (Gender)
- Cri-du-chat (Cat's Cry) Syndrome
- Cat Eye Syndrome
- DiGeorge syndrome (22q11.2 deletion) syndrome
- Angelman syndrome/ Prader-Willi syndrome (15q11.2)
NIFTY® pro can test more than 80 kinds of microdeletion or microduplication syndromes including:
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| Test Code | NIFTY®Pro |
| Turnaround Time (TAT) | 15 Days |
| Sample Tested | NIFTY® Test Pro- Plasma 2ml (4 tubes required); Stored in 1.5ml Eppendorf tubes, and sealed with 1cm wide parafilm (Stored at -80 ˚C, shipped with dry ice within one week.)
- Maternal Blood (10ml); Gently invert the tube ten times immediately after blood sampling. Stored and shipped between 6~35 ˚C within 4 days. Keep the tubes upright during shipping.
- This test available from 10th week of pregnancy
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| Methodology | - NIFTY® Test Pro works by isolating the cfDNA (including both maternal and fetal DNA) from a maternal blood sample and performing low coverage whole genome sequencing
- Unique reads of each chromosome are calculated and compared to an optimal reference control sample.
- Data is analyzed using BGI's proprietary bioinformatics algorithms and a risk score and/or assessment is produced for trisomies.
- For gender identification, cfDNA is followed with molecular genetic testing to analyze if Y chromosome is detected or not detected.
- Genetic Counselling.
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| Advantages | NIFTY® Test Pro- SAFE; (Non-invasive with no risk of miscarriage).
- ACCURATE; (Proven >99% sensitivity based on a study of nearly 147,000 pregnancies).
- Comprehensive; (All chromosomal numeric aneuploidies).
- NIFTY® pro can test more than 80 kinds of microdeletion or microduplication syndromes.
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