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 |
|---|---|---|---|---|---|---|---|---|
| Smith-Magenis syndrome | chr17 | 16,773,072 | 20,222,149 | 3.45 Mb | DEL | ✓ | ✓ | ✓ |
| Sotos syndrome-1 (SOTOS1) | chr5 | 176,600,000 | 180,915,260 | 4.32 Mb | DEL | ✗ | ✗ | ✓ |
| Split-hand or foot (7q21.3) | chr7 | N/A | N/A | N/A | N/A | ✗ | ✓ | ✓ |
| Terminal 6q Microdeletion syndrome | chr6 | 155,500,000 | 164,500,000 | 9.00 Mb | DEL | ✗ | ✓ | ✓ |
| WAGR syndrome | chr11 | 31,000,000 | 36,400,000 | 5.40 Mb | DEL | ✗ | ✗ | ✓ |
| WAGRO syndrome | chr11 | 31,000,000 | 43,500,000 | 12.50 Mb | DEL | ✗ | ✓ | ✓ |
| Williams-Beuren Syndrome (WBS)- (7q11.23 deletion syndrome) | chr7 | 72,744,455 | 74,142,672 | 1.40 Mb | DEL | ✓ | ✓ | ✓ |
| Wolf-Hirschhorn syndrome | chr4 | 1 | 4,500,000 | 4.50 Mb | DEL | ✗ | ✗ | ✓ |
| Xp11.23-p11.22 duplication syndrome | chrX | N/A | N/A | N/A | DUP | ✗ | ✓ | ✓ |
| Xp11.3 deletion syndrome | chrX | N/A | N/A | N/A | DEL | ✗ | ✗ | ✓ |
| Xp21 deletion syndrome | chrX | N/A | N/A | N/A | DEL | ✗ | ✓ | ✓ |
| Xq21 deletion syndrome | chrX | N/A | N/A | N/A | DEL | ✗ | ✓ | ✓ |
| Xq22.3 deletion syndrome | chrX | N/A | N/A | N/A | DEL | ✗ | ✗ | ✓ |
| Xq27.3-q28 duplication syndrome | chrX | N/A | N/A | N/A | DUP | ✗ | ✓ | ✓ |
| Xq28 deletion syndrome | chrX | N/A | N/A | N/A | DEL | ✗ | ✓ | ✓ |