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 |
|---|---|---|---|---|---|---|---|---|
| 3pter-p25 microdeletion syndrome | chr3 | 8,700,000 | 16,400,000 | 7.70 Mb | DEL | ✗ | ✓ | ✓ |
| 3q13.31 microdeletion syndrome | chr3 | 113,500,000 | 117,300,000 | 3.80 Mb | DEL | ✗ | ✗ | ✓ |
| 3q29 microdeletion syndrome | chr3 | 195,726,835 | 197,344,663 | 1.62 Mb | DEL | ✗ | ✗ | ✓ |
| 3q29 microduplication syndrome | chr3 | 195,726,835 | 197,344,663 | 1.62 Mb | DUP | ✗ | ✗ | ✓ |
| 4q21 microdeletion syndrome | chr4 | 76,300,000 | 88,000,000 | 11.70 Mb | DEL | ✗ | ✓ | ✓ |
| 4q32.1-q32.2 microduplication syndrome | chr4 | 155,600,000 | 164,500,000 | 8.90 Mb | DUP | ✗ | ✓ | ✓ |
| 4q32.1-q32.2 triplication syndrome | chr4 | N/A | N/A | 8.90 Mb | N/A | ✗ | ✓ | ✓ |
| 5p13 microduplication syndrome | chr5 | 28,900,000 | 42,500,000 | 14.60 Mb | DUP | ✗ | ✓ | ✓ |
| 5q deletion syndrome | chr5 | 149,800,000 | 152,700,000 | 2.90 Mb | DEL | ✗ | ✗ | ✓ |
| 5q12 microdeletion syndrome | chr5 | 58,900,000 | 66,700,000 | 7.80 Mb | DEL | ✗ | ✓ | ✓ |
| 5q13.2 microdeletion syndrome | chr5 | N/A | N/A | N/A | DEL | ✗ | ✗ | ✓ |
| 5q14.3 microdeletion syndrome | chr5 | 82,800,000 | 98,200,000 | 15.40 Mb | DEL | ✗ | ✓ | ✓ |
| 6pter-p24 microdeletion syndrome | chr6 | 1 | 13,400,000 | 13.40 Mb | DEL | ✗ | ✓ | ✓ |
| 6q11-q14 microdeletion syndrome | chr6 | 57,000,000 | 88,000,000 | 31.00 Mb | DEL | ✗ | ✓ | ✓ |
| 6q24-q25 microdeletion syndrome | chr6 | 139,000,000 | 161,000,000 | 22.00 Mb | DEL | ✗ | ✓ | ✓ |
| 7q microdeletion syndrome | chr7 | 54,000,000 | 159,138,663 | 105.14 Mb | DEL | ✗ | ✗ | ✓ |
| 7q11.23 microdeletion syndrome | chr7 | 72,200,000 | 77,500,000 | 5.30 Mb | DEL | ✗ | ✗ | ✓ |
| 7q11.23 microduplication syndrome | chr7 | 72,744,455 | 74,142,672 | 1.40 Mb | DUP | ✗ | ✗ | ✓ |
| 8p23.1 microdeletion syndrome | chr8 | 8,100,055 | 11,764,629 | 3.66 Mb | DEL | ✗ | ✗ | ✓ |
| 8p23.1 microduplication syndrome | chr8 | 8,100,055 | 11,764,629 | 3.66 Mb | DUP | ✗ | ✗ | ✓ |
| 8q12.1-q21.2 microdeletion syndrome | chr8 | 61,600,000 | 86,900,000 | 25.30 Mb | DEL | ✗ | ✓ | ✓ |
| 8q22.1 microdeletion syndrome | chr8 | 93,300,000 | 99,000,000 | 5.70 Mb | DEL | ✗ | ✗ | ✓ |
| 8q22.1 microduplication syndrome | chr8 | 93,300,000 | 99,000,000 | 5.70 Mb | DUP | ✗ | ✗ | ✓ |
| 9p microdeletion syndrome | chr9 | 1 | 47,300,000 | 47.30 Mb | DEL | ✗ | ✓ | ✓ |
| 9p24.3 microdeletion syndrome | chr9 | 1 | 2,200,000 | 2.20 Mb | DEL | ✗ | ✗ | ✗ |
| Angelman Syndrome (Type I) | chr15 | 22,749,354 | 28,438,266 | 5.07 Mb | DEL | ✓ | ✓ | ✓ |
| Angelman Syndrome (Type II) | chr15 | 23,619,912 | 28,438,266 | 4.82 Mb | DEL | ✗ | ✗ | ✓ |
| Beckwith-Wiedemann syndrome(BWS) | chr11 | 1 | 2,800,000 | 2.80 Mb | DEL | ✗ | ✗ | ✗ |
| Cat Eye syndrome (Type I) | chr22 | 1 | 18,527,801 | 18.53 Mb | DUP | ✗ | ✗ | ✗ |
| Charcot-Marie-Tooth syndrome Type 1A (CMT1A) (17p12) | chr17 | 14,097,915 | 15,470,903 | 1.37 Mb | DUP | ✗ | ✗ | ✗ |
| CHDM (chordoma) (6q27) | chr6 | 164,500,000 | 171,115,067 | 6.62 Mb | DUP | ✗ | ✓ | ✓ |
| Cri du chat syndrome (5p microdeletion syndrome) | chr5 | 10,001 | 12,533,304 | 12.52 Mb | DEL | ✓ | ✓ | ✓ |
| Dandy-Walker syndrome | chr3 | 129,200,000 | 148,900,000 | 19.70 Mb | DEL | ✗ | ✓ | ✓ |
| DiGeorge syndrome 2 | chr10 | 6,600,000 | 17,300,000 | 10.70 Mb | DEL | ✗ | ✓ | ✓ |
| Frias syndrome | chr14 | 50,900,000 | 58,100,000 | 7.20 Mb | DEL | ✗ | ✓ | ✓ |
| Hereditary neuropathy with pressure palsies (HNPP) - 17p11.2–p12 | chr17 | 14,097,915 | 15,470,903 | 1.37 Mb | DEL | ✗ | ✗ | ✗ |
| Holoprosencephaly 6 ( 17p13.3) | chr17 | N/A | N/A | N/A | N/A | ✗ | ✓ | ✓ |
| Homozygous 11p15-p14 microdeletion syndrome | chr11 | 1 | 31,000,000 | 31.00 Mb | DEL | ✗ | ✓ | ✓ |
| Jacobsen Syndrome | chr11 | 55,700,000 | 130,800,000 | 20.00 Mb | DEL | ✓ | ✓ | ✓ |
| Koolen‑de Vries syndrome (KdVS) (17q21.31 microdeletion syndrome) | chr17 | N/A | N/A | N/A | N/A | ✗ | ✗ | ✓ |
| Langer-Giedion syndrome | chr8 | 117,700,000 | 127,300,000 | 9.60 Mb | DEL | ✗ | ✓ | ✓ |
| Miller-Dieker syndrome (MDS) - 17p13.3 | chr17 | 1 | 2,588,909 | 2.54 Mb | DEL | ✗ | ✗ | ✓ |
| NF1-microdeletion syndrome | chr17 | 29,107,097 | 30,263,321 | 1.16 Mb | DEL | ✗ | ✗ | ✗ |
| Pallister-Killian syndrome (PKS) | chr12 | 1 | 35,800,000 | 35.80 Mb | DUP | ✗ | ✗ | ✓ |
| Phelan‑McDermid syndrome (PMS) - (22q13 microdeletion syndrome) | chr22 | N/A | N/A | N/A | N/A | ✗ | ✗ | ✓ |
| Potocki-Lupski syndrome (17p11.2 microduplication syndrome) | chr17 | 16,773,072 | 20,222,149 | 3.45 Mb | DUP | ✗ | ✗ | ✓ |
| Potocki-Shaffer syndrome | chr11 | 43,994,800 | 46,052,450 | 2.06 Mb | DEL | ✗ | ✗ | ✗ |
| Prader-Willi Syndrome (Type I) | chr15 | 22,749,354 | 28,438,266 | 5.07 Mb | DEL | ✓ | ✓ | ✓ |
| Prader-Willi Syndrome (Type II) | chr15 | 23,619,912 | 28,438,266 | 4.82 Mb | DEL | ✗ | ✗ | ✗ |
| Renal Cysts and Diabetes (RCAD) syndrome | chr17 | 34,815,072 | 36,215,917 | 1.40 Mb | DEL | ✗ | ✗ | ✗ |