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| Test Code | Suspected Diagnosis | Probe Target | Gene(s)/Unique Sequence | |
|---|---|---|---|---|
| 0040208 | Aneuploidy, common | 13/18/21/X/Y | ||
| Microdeletion Syndromes | ||||
| 2002299 (Order this test and specify probes) | 4p- | 4p16.3 | WHSC1 | |
| 5p- | 5p15.2 | D5S23-D5S721 | ||
| 15q11.2-13 duplication | 15q11.2-13 | D15S11, D15S10 | ||
| 22qter deletion | 22q13.3 | 22qtel (SHANK3) | ||
| Angelman syndrome | 15q11.2-13 | D15S10 | ||
| Cri-du-chat syndrome | 5p15.2 | D5S23-D5S721 | ||
| DiGeorge syndrome | 22q11.2 | TUPLE-1 (HIRA) | ||
| Kallmann syndrome | Xp22.3 | KAL1 | ||
| Male detection (SRY) | Yp11.3 | SRY | ||
| Miller-Dieker syndrome (lissencephaly) | 17p13.3 | LIS1 | ||
| Phelan-McDermid syndrome | 22q13.3 | 22qtel (SHANK3) | ||
| Prader-Willi syndrome | 15q11.2-13 | D15S10 | ||
| SHOX | Xp22.3 | SHOX | ||
| Smith-Magenis syndrome | 17p11.2 | SHMT1, TOP3, FL11, LLGL1 | ||
| SRY | Yp11.3 | SRY | ||
| Steroid sulfatase deficiency (STS, X-linked ichthyosis) | Xp22.3 | STS | ||
| Velocardiofacial (VCF) syndrome | 22q11.2 | TUPLE-1 (HIRA) | ||
| Williams syndrome (elastin) | 7q11.23 | ELN, LIMK1, D7S613 | ||
| Wolf-Hirschhorn syndrome | 4p16.3 | WHSC1 | ||
| Miscellaneous (Please contact the lab prior to ordering) | ||||
| 2002299 or 2002298 (Order one of these tests and specify probes) | Acrocentric p-arm | NOR regions of all acrocentric chromosomes | ||
| X centromere | Xcen | DXZ1 | ||
| X inactivation locus | Xq13 | XIST | ||
| Y centromere | Ycen | DYZ3 | ||
| Male detection (SRY) | Yp11.3 | SRY | ||
| Yq12 | Yq12 | DYZ1-YsatIII | ||
