Human Genetics Laboratory


Lab Information

Lab Phone: 402-559-5070
Email: mmihgl@unmc.edu
Supplies: 402-559-5070

Certifications / Licenses:
CLIA #  28D0454363
CAP #  19749-09

California license 
Florida license

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Shipping Address

Cytogenetics Laboratory
Zip 5440
UNMC Shipping & Receiving Dock
668 South 41 Street
Omaha, NE  68105

Newsletter

Human Genetics Lab Newsletter

Tests Available

 

Alphabetical List of Conditions for Which Testing is Available

 

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

 

1p36 Deletion Syndrome
2q37 Deletion Syndrome
3q29 Telomere Deletion Syndrome
8p23.1 Duplication/Deletion Syndrome
9q34.5 Telomere Deletion Syndrome
11q Terminal Deletion Disorder/Jacobsen Syndrome (11q25)
15q26.3 Duplication/Deletion Syndromes
17q21 Deletion Syndrome
22q Telomere Deletion Syndrome
22q11.2 Deletion Syndrome
46, XX Testicular Disorder of Sex Development (Yp11.3)
Alagille Syndrome (20p12.2)
Alpha-thalassemia/MR (Xq13, 16p13.3)
Alpha-thalassemia (16p13.3)
Alport Syndrome (Xq22.3)
Androgen Insensitivity Syndrome (Xq12)
Angelman Syndrome (15q11.2)
Aniridia, type II (11p13)
Austism
Autistic Features (Xp22.32)
Bannayan-Riley-Ruvalcaba Syndrome (10q23.31)
Basal Cell Nevus/Gorlin-Goltz Syndrome (9q22.32)
Beckwith-Wiedemann Syndrome (11p15.5)
Blepharophimosis, ptosis, and epicanthus inversus (BPES) (3q22.3)
Brachydactyly, type C (BDC) (20q11.22)
Brachydactyly-MR Syndrome (2q37.3)
Branchio-Oto-Renal Syndrome/Oto-Facio-Cervical Syndrome (8q13.3)
Campomelic Dysplasia (17q24.3)
Cat-eye Syndrome (22q11.1)
Charcot-Marie-Tooth Neuropathy Type 1A (17q11.2)
CHARGE Syndrome (8q12.2)
Cleft palate (2q32)
Cleidocranial Dysplasia (6p21.1)
COL1A1 Associated Connective Tissue Disorders (17q21.3)
COL2A1 Associated Connective Tissue Disorders (12q13.11)
Congenital Adrenal Hypoplasia (CAH)/Dosage Sensitive Sex Reversal (Xp21.2)
Congenital Diaphragmatic Hernia (15q26.2)
Cornelia de Lange Syndrome (CdLS) (5p13.2)
Cornelia de Lange Syndrome, X-linked (Xp11.22)
Cowden Syndrome (10q23.31)
Craniosynostosis (11p15.3-p15.2)
Cri du Chat Syndrome (5p15.2)
Dandy-Walker Malformation (3q24)
DiGeorge Syndrome (22q11.2)
DiGeorge Syndrome 2 (10p14)
Dosage Sensitive Sex Reversal/Congenital Adrenal Hypoplasia (CAH) (Xp21.2)
Duchenne Muscular Dystrophy - Related Dilated Cardiomyopathy (Xp21.2)
Duplication 17p11.2 Syndrome (17p11.2)
Dystrophinopathies (Xp21.2)
Familial Adenomatous Polyposis (FAP)/Gardner/MR (5q22.2)
Feingold Syndrome (2p24.3)
Fragile X Syndrome (Xq27.3)
Gardner/Familial Adenomatous Polyposis (FAP)/MR (5q22.2)
Glycerol Kinase Deficiency (Xp21.2)
Gorlin-Goltz/Basal Cell Nevus Syndrome (9q22.32)
Greig Cephalopolysyndactyly Syndrome (7p13)
Hemophilia A (Xq26)
Hereditary Neuropathy with liability to Pressure Palsies (17p11.2)
Holoprosencephaly 1 (21q22.3)
Holoprosencephaly 2 (2p21)
Holoprosencephaly 3 (7q36.3)
Holoprosencephaly 4 (18p11.31)
Holoprosencephaly 5 (13q32.3)
Holoprosencephaly 6 (2q37.1-q37.3)
Holoprosencephaly 7 (9q22.32)
Holoprosencephaly 9 (2q14.2)
Hunter syndrome (Mucopolysaccharidosis, type II) (Xq28)
Hypogammaglobulinemia, Isolated Growth Hormone Deficiency (Xq22.1)
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease (10p14)
Incontinentia Pigmenti (Xq26)
Infantile Spasm Syndrome, X-linked (Xp22.13)
Infantile Spasms with CDKL5 Deficiency (Xp22.13)

Jacobsen Syndrome/11q Terminal Deletion Disorder (11q25)
Joubert Syndrome (2q13)
Juvenile Nephronophthisis (2q13)
Kallmann Syndrome 1 (Xp22.31)
Langer-Giedion Syndrome (8q24.11)
Leri-Weill Dyschondrosteosis (Xp22.33/Yp11.32)
Lesch-Nyhan Syndrome (Xq26.2)
LIS1 - Associated Lissencephaly/Subcortical Band Heterotopia (17p13.3)
Loeys-Dietz Syndrome (3p24.1)
Loeys-Dietz Syndrome (9q22.33)
Marfan Syndrome (15q21.1)
Marfan Syndrome type II (3p24.1)
MECP2-Related Disorders (Xq28)
MECP2 Duplication Syndrome (Xq28)
Menkes Disease (Xq21.2)
Microphthalmia, Syndromic 3 (3q26.3-q27)
Microphthalmia, Syndromic 7 (Xp22.2)
Miller-Dieker/Lissencephaly (17p13.3)
Mitochondrial Complex I deficiency (11q14.2-q14.3)
Mowat-Wilson Syndrome (2q22)
MR/Alpha-thalassemia (Xq13, 16p13.3)
MR-Brachydactyly Syndrome (2q37.3)
MR, X-linked 21 (MRX21) (Xp21.3)
Mucopolysaccharidosis, type II (Hunter syndrome) (Xq28)
Nail-Patella Syndrome (9q33.3)
Neurofibromatosis type 1 (17q11.2)
Neurofibromatosis type 2 (22q12.2)
Noonan Syndrome 1 (12q24.13)
Opitz Syndrome (Xp22.2)
Ornithine Transcarbamylase Deficiency (Xp11.4)
Orofaciodigital Syndrome (Xp22.2)
Oto-Facio-Cervical Syndrome/Brancio-Oto-Renal Syndrome (8q13.3)
Pallister-Killian Syndrome (12p)
Pelizaeus-Merzbacher Disease (X2qq.2)
Polycystic Kidney Disease (16p13.3)
Potocki-Shaffer Syndrome (11p11.2)
Prader-Willi Syndrome (15q11.2)
Prader-Willi-like Phenotype (6q16.3)
PTEN Hamartoma Tumor Syndrome (10q23.31)
Renal Cysts and Diabetes Syndrome (17q12)
Retinoblastoma (RB1) (13q14.2)
Retinoschisis, X-linked juvenile (Xp22.13)
Rett Syndrome (Xq28)
Rieger Syndrome, type 1 (4q25)
Rubinstein-Taybi Syndrome (16p13.3)
Saethre-Chotzen Syndrome (7p21.1)
Sex Determining Region Y (Yp11.2)
Shprintzen-DiGeorge Syndrome (22q11.2)
Smith-Magenis Syndrome (17p11.2)
Sotos Syndrome (5q35.3)
Speech-Language Disorder 1 (7q31.1)
Split-Hand/Foot Malformation 1 (7q21.3)
Split-Hand/Foot Malformation 3 (10q24.32)
Split-Hand/Foot Malformation 4 (3q28)
Split-Hand/Foot Malformation 5 (2q31.1)
SRY - Related 46,XY DSD and 46,XY CGD
Steroid Sulfatase Deficiency (Xp22.31)
Stickler Syndrome, Type II (1p21.1)
Synpolydactyly I/Syndactyly II (2q31.1)
Treacher Collins Syndrome (5q32)
Trichorhinophalangeal Syndrome, Type I (8q23.3)
Tuberous Sclerosis I (9q34.2)
Tuberous Sclerosis II (16p13.3)
Van der Woude Syndrome (1q32)
Waardenburg Syndrome Type I
Waardenburg Syndrome Type IIA (3p13)
Waardenburg Syndrome Type III
WAGR Syndrome (11p13)
Williams Syndrome (7q11.23)
Wilms Tumor (11p13)
Wolf-Hirschhorn Syndrome (4p16.3)
X Inactivation Center (Xq13)
X-linked Heterotaxy (Xq26.3)
X-linked Ichthyosis
X-linked juvenile Retinoschisis (Xp22.13)
X-linked Lissencephaly (Xq23)
X-linked Lymphoproliferative Syndrome (Xq25)
X-linked Mental Retardation with Isolated Growth Hormone Deficiency (Xq27.1)
X-linked MR with Retinitis Pigmentosa (Xp11.3)
XY Sex-reversal +/- Adrenal Failure (9q33.3)