Complete Microdeletion & Microduplication Panel
Comprehensive list of all microdeletions and microduplications screened across our NIPT packages. This panel includes clinically significant syndromes associated with developmental delay, congenital anomalies, and neurodevelopmental disorders.
8
In 8 MD Package
62
In 60 MD Package
96
In 93 MD Package
115
Total Syndromes
| Syndrome | Chromosomal Region | Start | End | Size (Mb) | Type | 8 MD | 60 MD | 93 MD |
|---|---|---|---|---|---|---|---|---|
| 10q22.3-q23.2 microdeletion syndrome | chr10 | 82,000,000 | 97,000,000 | 15.00 Mb | DEL | ✗ | ✓ | ✓ |
| 10q26 microdeletion syndrome | chr10 | 119,100,000 | 135,534,747 | 16.40 Mb | DEL | ✗ | ✓ | ✓ |
| 11q23 microdeletion syndrome | chr11 | 110,400,000 | 121,200,000 | 10.80 Mb | DEL | ✗ | ✓ | ✓ |
| 12q14 microdeletion syndrome | chr12 | 65,071,919 | 68,645,525 | 3.57 Mb | DEL | ✗ | ✗ | ✓ |
| 13q14 microdeletion syndrome | chr13 | 40,100,000 | 55,300,000 | 15.20 Mb | DEL | ✗ | ✓ | ✓ |
| 13q34 monosomy | chr13 | 110,300,000 | 115,169,878 | 4.80 Mb | DEL | ✗ | ✗ | ✓ |
| 14q11-q22 microdeletion syndrome | chr14 | 17,600,000 | 58,100,000 | 40.50 Mb | DEL | ✗ | ✓ | ✓ |
| 14q32 microduplication syndrome | chr14 | 89,800,000 | 107,349,540 | 17.50 Mb | DUP | ✗ | ✓ | ✓ |
| 15q13.3 microdeletion syndrome | chr15 | 30,910,306 | 32,445,407 | 1.54 Mb | DEL | ✗ | ✗ | ✗ |
| 15q24 microdeletion syndrome | chr15 | 74,412,643 | 75,972,911 | 1.56 Mb | DEL | ✗ | ✗ | ✗ |
| 15q25 deletion syndrome | chr15 | N/A | N/A | N/A | DEL | ✗ | ✓ | ✓ |
| 15q26 Overgrowth syndrome | chr15 | 99,357,970 | 102,521,392 | 3.17 Mb | DUP | ✗ | ✗ | ✓ |
| 15q26-qter deletion syndrome | chr15 | N/A | N/A | N/A | DEL | ✗ | ✓ | ✓ |
| 15q26-qter Levy-Shanske syndrome | chr15 | N/A | N/A | N/A | DEL | ✗ | ✓ | ✓ |
| 15q26.1 Diaphragmatichernia,congenital(HCD/DIH) | chr15 | N/A | N/A | 5.20 Mb | DEL | ✗ | ✗ | ✓ |
| 16p microdeletion syndrome | chr16 | 1 | 34,600,000 | 34.60 Mb | DEL | ✗ | ✗ | ✓ |
| 16p11.2-p12.2 microdeletion syndrome | chr16 | 21,512,062 | 30,199,854 | 8.69 Mb | DEL | ✗ | ✗ | ✗ |
| 16p11.2-p12.2 microduplication syndrome | chr16 | 21,475,060 | 29,284,077 | 7.81 Mb | DUP | ✗ | ✓ | ✓ |
| 16p12.2-p11.2 microdeletion syndrome | chr16 | N/A | N/A | N/A | DEL | ✗ | ✓ | ✓ |
| 16p13.11 recurrent microdeletion syndrome | chr16 | 14,986,684 | 16,486,684 | 1.50 Mb | DEL | ✗ | ✗ | ✗ |
| 16p13.11 recurrent microduplication syndrome | chr16 | 14,986,684 | 16,486,684 | 1.50 Mb | DUP | ✗ | ✗ | ✗ |
| 16p13.3 microdeletion syndrome | chr16 | 1 | 7,900,000 | 7.90 Mb | DEL | ✗ | ✓ | ✓ |
| 16p13.3 microduplication syndrome | chr16 | 1 | 7,900,000 | 7.90 Mb | DUP | ✗ | ✓ | ✓ |
| 16q22 microdeletion syndrome | chr16 | 66,700,000 | 74,100,000 | 7.40 Mb | DEL | ✗ | ✓ | ✓ |
| 17p12-p11.2 Yuan-Harel-Lupski syndrome | chr17 | N/A | N/A | N/A | N/A | ✗ | ✓ | ✓ |
| 17q12 deletion syndrome | chr17 | N/A | N/A | N/A | DEL | ✗ | ✓ | ✓ |
| 17q12 duplication syndrome | chr17 | N/A | N/A | N/A | DUP | ✗ | ✓ | ✓ |
| 18p microdeletion syndrome | chr18 | 1 | 73,100,000 | 73.10 Mb | DEL | ✗ | ✓ | ✓ |
| 18q microdeletion syndrome | chr18 | 68,700,000 | 78,077,248 | 10.07 Mb | DEL | ✗ | ✓ | ✓ |
| 18q21.1 Dyggve-Melchior-Clausen syndrome(DMC) | chr18 | N/A | N/A | N/A | N/A | ✗ | ✗ | ✓ |
| 19p13.13 microdeletion syndrome | chr19 | 1 | 6,900,000 | 6.90 Mb | DEL | ✗ | ✓ | ✓ |
| 1p21.3 microdeletion syndrome | chr1 | 94,700,000 | 99,700,000 | 5.00 Mb | DEL | ✗ | ✗ | ✓ |
| 1p31 microduplication syndrome | chr1 | 61,300,000 | 68,900,000 | 7.60 Mb | DUP | ✗ | ✓ | ✓ |
| 1p32-p31 microdeletion syndrome | chr1 | 50,700,000 | 84,900,000 | 34.20 Mb | DEL | ✗ | ✗ | ✓ |
| 1p36 microdeletion syndrome | chr1 | 10,001 | 12,840,259 | 12.77 Mb | DEL | ✓ | ✓ | ✓ |
| 1q21.1 recurrent microdeletion syndrome | chr1 | 146,533,376 | 147,883,376 | 1.35 Mb | DEL | ✗ | ✗ | ✗ |
| 1q21.1 recurrent microduplication syndrome | chr1 | 146,533,376 | 147,883,376 | 1.35 Mb | DUP | ✗ | ✗ | ✗ |
| 1q41-q42 microdeletion syndrome | chr1 | 214,500,000 | 236,600,000 | 22.10 Mb | DEL | ✗ | ✓ | ✓ |
| 21q22.3 Holoprosencephaly 1 | chr22 | N/A | N/A | 5.53 Mb | N/A | ✗ | ✗ | ✓ |
| 22q11 microdeletion syndrome (Velocardiofacial / DiGeorge syndrome) | chr22 | 19,009,792 | 21,452,445 | 2.08 Mb | DEL | ✓ | ✓ | ✓ |
| 22q11 microduplication syndrome | chr22 | 19,009,792 | 21,452,445 | 2.08 Mb | DUP | ✗ | ✗ | ✗ |
| 22q11.2 distal deletion syndrome | chr22 | 21,917,117 | 23,722,445 | 1.82 Mb | DEL | ✗ | ✗ | ✗ |
| 2p12-p11.2microdeletion syndrome | chr2 | 75,000,000 | 90,500,000 | 15.50 Mb | DEL | ✗ | ✓ | ✓ |
| 2p15-16.1 microdeletion syndrome | chr2 | 59,285,696 | 61,819,815 | 2.53 Mb | DEL | ✗ | ✗ | ✗ |
| 2p16.1-p15 deletion syndrome | chr2 | N/A | N/A | N/A | DEL | ✗ | ✓ | ✓ |
| 2p16.3 microdeletion syndrome | chr2 | 47,800,000 | 52,900,000 | 5.10 Mb | DEL | ✗ | ✗ | ✓ |
| 2q31.1 microduplication syndrome | chr2 | 169,700,000 | 178,000,000 | 8.30 Mb | DUP | ✗ | ✓ | ✓ |
| 2q33.1 microdeletion syndrome | chr2 | 196,925,121 | 205,206,939 | 8.28 Mb | DEL | ✗ | ✓ | ✓ |
| 2q34-q36 duplication syndrome | chr2 | N/A | N/A | N/A | DUP | ✗ | ✓ | ✓ |
| 2q35 microduplication syndrome | chr2 | 215,300,000 | 221,500,000 | 6.20 Mb | DUP | ✗ | ✗ | ✓ |