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Cytogenetics Laboratory
Zip 5440
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| Selected Conditions Included |
Location |
| Adrenal hypoplasia congenita |
Xp21 |
| Alagille |
20p11.23 |
| Angelman |
15q12 |
| Beckwith-Wiedemann |
11p15.5 |
| Charcot-Marie-Tooth Type 1A (CMT/A) |
17p12 |
| CHARGE |
8q12.1 |
| Cri-du-Chat |
5p15 |
| DiGeorge I |
22q11.2 |
| DiGeorge II |
10p13 |
| Down syndrome critical region |
21q22.1 |
| Duchenne muscular dystrophy |
Xp21.1 |
| Exostoses, multiple type I (EXTI) |
8q24.11 |
| Glycerol kinase deficiency |
Xp21 |
| Gonadal dysgenesis XY Type (SRY) |
Yp11.31 |
| Greig cephalopolysyndactyly |
7p13 |
| HDR syndrome |
10p14 |
| Holoprosencephaly 1 |
21q22.3 |
| Kallmann |
Xp22.3 |
| Langer-Giedion |
8q24 |
| Microphthalmia with linear skin defects |
Xp22.3 |
| Miller-Dieker |
17p13.3 |
| Monosomy 1p36 |
1p36 |
| Nebulette (NEBL) |
10p12.31 |
| Neurofibromatosis I |
17q11.2 |
| Pallister-Killian |
12p |
| Pelizaeus-Merzbacher disease |
Xq21 |
| Polycystic kidney disease |
16p13.3 |
| Potocki-Shaffer |
11p11.2 |
| Prader-Willi |
15q12 |
| Retinoblastoma / MR |
13q14 |
| Rubinstein-Taybi |
16p13.3 |
| Saethre-Chotzen |
7p21 |
| Smith-Magenis |
17p11.2 |
| Sotos |
5q35 |
| Split foot - Split hand |
10q24.32 |
| Steroid sulfatase deficiency |
Xp22.3 |
| Trichorhinophalangeal syndrome |
8q23.3 |
| Tuberous sclerosis 2 |
16p13.3 |
| TWIST |
7p21.1 |
| WAGR |
11p13 |
| Williams |
7p11.23 |
| Wilm's tumor (WTI) |
11p13 |
| Wolf-Hirschhorn |
4p16 |
| X-linked heterotaxy |
Xq26.2 |
| All 43 unique pericentromeric regions |
43 sites |
| All 41 unique subtelomeric regions |
41 sites |
*The Spectral Genomic Constitutional Array includes 606 cclones throughout the entire genome. thye 606 clones are 118 specific gene loci which, when deleted or duplicated, are known to be associated with clinical disease. There are also clinical regions not represented in this chip for which we have validated FISH probes. Please call the Human Genetics Lab if the specific region of interest is not included in the list above.
Revised 10/23/2007