NICC® Extended is an advanced form of NIPT that provides broad coverage of chromosomal changes, including both common aneuploidies such as Down Syndrome (Trisomy 21) and 100+ clinically significant copy number variations (CNVs). These include important microdeletion and microduplication syndromes (MMSs) such as DiGeorge Syndrome (22q11.2 deletion), 1p36 Deletion Syndrome, Smith-Magenis Syndrome, Cri-du-Chat Syndrome, and Prader-Willi/ Angelman Syndrome, among others.
The genetic conditions tested in NICC® Extended are carefully curated based on international guidelines and global expert recommendations. NICC® Extended offers one of the most comprehensive MMSs screenings available. With the ability to detect 92 different MMSs, this test goes beyond standard NIPT by covering conditions that may be rare in incidence but significant in clinical impact.
By extending beyond the scope of standard NIPT, NICC® Extended gives parents and clinicians a broader and deeper understanding of chromosomal health during pregnancy, supporting earlier, more informed, and personalized healthcare decisions.
Microdeletions and microduplications are relatively rare in pregnancy, yet they can have significant clinical impact. By extending coverage to 92 MMSs, NICC® Extended provides:
Invaluable healthcare insights for early detection and management
Greater clinical confidence compared to standard NIPT
A comprehensive picture of fetal health through advanced CNV analysis
Down Syndrome (Trisomy 21) is the most common chromosomal condition, occurring in about 1 in 700 pregnancies worldwide. While standard prenatal screening often includes Down Syndrome, Edwards Syndrome and Patau Syndrome, other important chromosomal changes such as MMSs are much rarer but equally significant. Even with the low incidence of MMSs, identifying them can be crucial. NICC® Extended emphasizes the benefits of broader genetic coverage, ensuring parents and clinicians have access to critical information that supports informed decisions and personalized care.
| Specimen Requirements | |
|---|---|
| Clinical usage | Non-invasive prenatal test (NIPT) to assess the risk of fetal chromosomal aneuploidies for: – Trisomies (T21, T18, T13, T9, T16 & T22) – Sex chromosome aneuploidies (XO, XXY, XXX & XYY) – Other autosomal chromosomes aneuploidy – 92 microdeletion / microduplication syndromes – Gender (optional) NOTE: – NICC® Extended test comes with insurance coverage – Sex chromosome aneuploidies testing is not applicable for twin pregnancy |
| Type of sample | 8 – 10 ml maternal blood in Streck® tube |
| Patient requirement | Gestation age: 10 weeks onwards No fasting required IMPORTANT: – Please read and sign the consent on the test request form & medical insurance consent form – In the case of vanishing twin: i. Please ensure to include the date of loss for the vanishing twin ii. ONLY applicable for developmental arrest that occurs before 8 weeks of pregnancy iii. Sampling can ONLY be done at least 8 weeks after the developmental arrest |
| Storage & transportation | Streck® tube is transported in ROOM TEMPERATURE (20°C- 35°C) and MUST arrive in laboratory within 96 hours after blood drawing |
| Turnaround Time (TAT) | 10 working days |
| No. | CNV Syndrome |
|---|---|
| 1 | Chromosome 1p36 deletion syndrome |
| 2 | Chromosome 1q41-q42 deletion syndrome |
| 3 | Chromosome 1p32-p31 deletion syndrome |
| 4 | Chromosome 2p16.1-p15 deletion syndrome |
| 5 | Chromosome 2q33.1 deletion syndrome |
| 6 | Chromosome 2q31.1 duplication syndrome |
| 7 | Chromosome 2q37 deletion syndrome |
| 8 | Chromosome 2q31.1 microdeletion syndrome |
| 9 | Chromosome 2q duplication |
| 10 | Chromosome 3pter-p25 deletion syndrome |
| 11 | Dandy-Walker syndrome |
| 12 | Chromosome 3q13.31 deletion syndrome |
| 13 | Distal chromosome 3p duplication |
| 14 | Chromosome 3q duplication |
| 15 | Chromosome 4p16.3 deletion syndrome |
| 16 | Chromosome 4q21 deletion syndrome |
| 17 | Chromosome 4p duplication |
| 18 | Distal chromosome 4q duplication |
| 19 | Distal chromosome 4q deletion |
| 20 | Cri-du-Chat syndrome |
| 21 | Chromosome 5q14.3 deletion syndrome |
| 22 | Chromosome 5q12 deletion syndrome |
| 23 | Chromosome 5p13 duplication syndrome |
| 24 | Chromosome 5p duplication |
| 25 | Chromosome 6pter-p24 deletion syndrome |
| 26 | Chromosome 6q24-q25 deletion syndrome |
| 27 | Chromosome 6q11-q14 deletion syndrome |
| 28 | Chromosome 6p deletion |
| 29 | Chromosome 6q15-q23 deletion syndrome |
| 30 | Chromosome 6q25-qter deletion syndrome |
| 31 | Chromosome 6q26-q27 deletion syndrome |
| 32 | Chromosome 7q deletion |
| 33 | Chromosome 7q11.23 deletion syndrome |
| 34 | Chromosome 7q21-q32 deletion |
| 35 | Chromosome 7q31-q32 deletion |
| 36 | Chromosome 8p23.1 deletion syndrome |
| 37 | Chromosome 8p23.1 duplication syndrome |
| 38 | Langer-Giedion syndrome |
| 39 | Chromosome 8q22.1 deletion syndrome |
| 40 | Chromosome 8q22.1 duplication syndrome |
| 41 | Chromosome 8p duplication |
| 42 | Chromosome 8q duplication |
| 43 | Chromosome 9p deletion syndrome |
| 44 | Chromosome 9p duplication |
| 45 | DiGeorge syndrome 2 |
| 46 | Chromosome 10q22.3-q23.2 deletion syndrome |
| 47 | Chromosome 10q26 deletion syndrome |
| 48 | Chromosome 10p12-p11 deletion syndrome |
| 49 | Chromosome 10p duplication |
| 50 | Chromosome 11p13 deletion syndrome |
| 51 | Chromosome 11p11.2 deletion syndrome |
| 52 | Jacobsen syndrome |
| 53 | Chromosome 11q23 deletion syndrome |
| 54 | Chromosome 12q14 microdeletion syndrome |
| 55 | Chromosome 12p12.1 microdeletion syndrome |
| 56 | Chromosome 12p duplication |
| 57 | Chromosome 13q14 deletion syndrome |
| 58 | Distal chromosome 13q deletion |
| 59 | Chromosome 14q11-q22 deletion syndrome |
| 60 | Chromosome 14q22 deletion syndrome |
| 61 | Proximal chromosome 14q deletion |
| 62 | Chromosome 14q duplication |
| 63 | Angelman syndrome |
| 64 | Prader-Willi syndrome |
| 65 | Chromosome 15q26-qter deletion syndrome |
| 66 | Levy-Shanske syndrome |
| 67 | Chromosome 15q14 deletion syndrome |
| 68 | Chromosome 15q24 microdeletion syndrome |
| 69 | Chromosome 15q26 overgrowth syndrome |
| 70 | Distal chromosome 15q deletion |
| 71 | Chromosome 16p12.2-p11.2 deletion syndrome |
| 72 | Chromosome 16p12.2-p11.2 duplication syndrome |
| 73 | Chromosome 16p13.3 deletion syndrome |
| 74 | Chromosome 16p13.3 duplication syndrome |
| 75 | Proximal chromosome 16q duplication |
| 76 | Smith-Magenis syndrome |
| 77 | Chromosome 17p13.3 deletion syndrome |
| 78 | Potocki-Lupski syndrome |
| 79 | Chromosome 17p13.3 duplication syndrome |
| 80 | Yuan-Harel-Lupski syndrome |
| 81 | Chromosome 17p duplication |
| 82 | Chromosome 18p deletion syndrome |
| 83 | Distal chromosome 18q deletion syndrome |
| 84 | Alagille syndrome 1 |
| 85 | Chromosome 20p duplication |
| 86 | Chromosome 21q22 deletion |
| 87 | Chromosome 22q11.2 deletion syndrome |
| 88 | Chromosome Xp11.23-p11.22 duplication syndrome |
| 89 | Chromosome Xp21 deletion syndrome |
| 90 | Chromosome Xq27.3-q28 duplication syndrome |
| 91 | Chromosome Xq21 deletion syndrome |
| 92 | Chromosome Xq22.3 deletion syndrome |
| 93 | Trisomy 1 |
| 94 | Trisomy 2 |
| 95 | Trisomy 3 |
| 96 | Trisomy 4 |
| 97 | Trisomy 5 |
| 98 | Trisomy 6 |
| 99 | Trisomy 7 |
| 100 | Trisomy 8 |
| 101 | Trisomy 9 |
| 102 | Trisomy 10 |
| 103 | Trisomy 11 |
| 104 | Trisomy 12 |
| 105 | Trisomy 13/Patau Syndrome |
| 106 | Trisomy 14 |
| 107 | Trisomy 15 |
| 108 | Trisomy 16 |
| 109 | Trisomy 17 |
| 110 | Trisomy 18/Edwards Syndrome |
| 111 | Trisomy 19 |
| 112 | Trisomy 20 |
| 113 | Trisomy 21/Down's Syndrome |
| 114 | Trisomy 22 |
| 115 | XXX Syndrome/Trisomy X |
| 116 | XXY Syndrome/Klinefelter Syndrome |
| 117 | XYY Syndrome/Jacobs Syndrome |
| 118 | XO Syndrome/Turner Syndrome |
Allow us 2-3 days on weekends to tend to your enquiry.
Phone:
+603-7491 1700
Hotline:
+6019-600 2700
Fax:
+603-7499 3997
Our Services
Our Tests
Phone: +603-7491 1700
Hotline: +6019-600 2700
Fax: +603-7499 3997
Monday-Friday
8.30 am – 5.30 pm
Saturday
8.30 am – 1.00 pm