Diagnostic Tests Offered
Helping You Fit the Pieces Together. The Division of Human Genetics (DHG) Diagnostic Laboratories at Cincinnati Children's Hospital Medical Center perform a variety of tests for patients of all ages. Doctors do not need to be affiliated with Cincinnati Children's to order tests.
The DHG Diagnostic Laboratories currently offer the following genetic tests. You may expedite your search by selecting one of the alphabetical anchors below.
1p36 Deletion Syndrome FISH Probe Study
ABCB11 sequence analysis (BSEP deficiency)
ABCB4 sequence analysis (MDR3 deficiency)
ACADM sequence analysis (MCAD deficiency)
ACADVL sequence analysis (VLCAD deficiency)
Acetylcholinesterase (AchE)
Acid-Maltase Deficiency --Pompe Disease
Alagille Syndrome
ALL Hyperdiploid FISH Panel
ALL Risk Stratification FISH Panel
Alpha fetoprotein (AFP)
Alpha-1-Antitrypsin deficiency (AIAT) Alpha-Galactosidase A Deficiency (GLA deficiency) --Fabry Disease
AML FISH Panel
Amniotic Fluid Cell Culture Only
Amniotic Fluid Chromosome Analysis
Angelman Syndrome
APL FISH Panel
ATP8B1 sequence analysis
Auditory neuropathy (OTOF sequence analysis)
Autoimmune lymphoproliferative syndrome
B
Bcr-abl and PML-RAR by RT-PCR
BCR-ABL t(9;22) Translocation Assay by PCR Benign Recurrent intrahepatic cholestasis type 1 (BRIC1) Benign Recurrent intrahepatic cholestasis type 2 (BRIC2)
Benign Recurrent intrahepatic cholestasis type 3 (BRIC3)
BIRC4 sequence analysis
Bone Marrow Chromosome Analysis
Bone Marrow Engraftment Studies
- BME by STR
- BME for WBC sub-populations (You must call 513-636-4685 to schedule this test)
BSEP (Bile Salt Export Pump) deficiency genetic testing
Burkitt Lymphoma FISH Panel
Cadherin 23 sequence analysis
CD154 sequence analysis
CD40 ligand sequence analysis
CGH Microarray SNP
Chorionic Villi Cell Culture Only
Chorionic Villi Chromosome Analysis
Chromosome Analysis, Amniotic Fluid Sample
Chromosome Analysis, CVS Sample
Chromosome Analysis, High Resolution on Peripheral Blood
Chromosome Analysis, Oncology Blood
Chromosome Analysis, Routine on Peripheral Blood
Chromosome Breakage Studies , for Fanconi Anemia
CLL FISH Panel
Connexin 26
Connexin 30
Cowden / BRR Region FISH Probe Study
Cri du Chat FISH Probe Study
Deafness (see hearing loss)
Drug Metabolism Testing (see pharmacogenetic testing)
ELA2 / ELANE
Fabry Disease (GAA deficiency)
Factor V Leiden (see also Thrombophilic Panel)
Family Chromosome Study
Fanconi Anemia FISH Panel
Fanconi Anemia Chromosome Breakage Studies
FAS sequence analysis
FIC1 (familial intrahepatic cholestasis type 1 protein) genetic testing
FISH - Newborn STAT Study to r/o Aneuploidy
FISH - Oncology Study (Individual probes and panels)
FISH – Pediatric Microdeletion FISH Studies
FISH - Subtelomere FISH Panel
FISH Panel for Failed Tissue Chromosome Study
FOXP3 sequence analysis
Fragile X Syndrome
Gaucher Disease (GBA deficiency)
GJB2 sequence analysis
GJB6 sequence analysis
Griscelli Syndrome (RAB27A)
H
HAX1 sequence analysis
Hearing Loss Testing
Hemophagocytic lymphohistiocytosis (familial)
- PRF1 sequence analysis
- MUNC13-4/UNC13D sequence analysis
- STX11 sequence analysis
- RAB27A sequence analysis
Hereditary Hemochromatosis
Hereditary Liver Disease Testing
High Resolution Peripheral Blood Chromosome Analysis
Hunter Syndrome (MPS II)
Hypereosinophilia FISH Probe Study
Iduronate 2-Sulfatase (IDS) Deficiency
IL2RG sequence analysis
IPEX (X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome)
JAG1 sequence analysis (Alagille syndrome)
JAK2 V617F Quantitative Assay (JAK2)
JaundiceChip Resequencing Array (Includes analysis of genes ATP8B1, ABCB11, ABCB4, JAG1 and SERPINA1)
Kallman Syndrome FISH Probe Study
Kostmann syndrome (HAX1)sequence analysis
Large Cell NHL FISH Panel
Lymph Node Chromosome Analysis
MCAD-Medium-Chain Acyl Co-A Dehydrogenase Deficiency genetic testing
MDR3 (Multidrug Resistance P-Glycoprotein Class III) genetic testing
MECP2 (Rett Syndrome and its variants)
M-FISH Study (Multi-Color) (Multiplex FISH)
Microarray : Constitutional (Prenatal)
Microarray : SNP
Microdeletion FISH Study
Miller-Dieker FISH Probe Study
Mitochondrial Mutations Analysis for hearing loss
Mosaicism Study to r/o Mosaic Aneuploidy
MPS II (Hunter Syndrome)
Multiple Myeloma FISH Panel
MUNC13-4 sequence analysis
Myeloid Disorders FISH Panel
MYO7A sequence analysis
Newborn Peripheral Blood (PUBS Study)
Newborn STAT FISH to r/o Aneuploidy (Chromosomes 13, 18, 21, X, Y)
Oncology Blood Chromosome Analysis
Oncology FISH Study (Individual Probe)
OTOF sequence analysis
Paraffin Embedded Tissue FISH
Pendred Syndrome
Peripheral Blood Cell Culture Only
Pharmacogenetic Testing
Pompe Disease (GSD-II)
Prader-Willi / Angelman Syndrome FISH Probe Study
Prader-Willi Syndrome; DNA methylation
Prenatal Aneuploidy FISH Panel
Prenatal FISH for trisomy and sex chromosome anomalies
Prenatal SNP Microarray
PRF1 sequence analysis
Products of Conception Chromosome Analysis
Progressive Familial Intrahepatic Cholestasis type 1 (PFIC1)
Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2)
Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3)
RAB27A sequence analysis
Retinoblastoma region (~10% deletions) FISH Probe Study
Rett Syndrome and its variants
Routine Peripheral Blood Chromosome Analysis
SDS (Shwachman-Diamond Syndrome) FISH Panel
SERPINA1 sequence analysis
Severe Congenital Neutropenia and Cyclic Neutropenia
Sex Chromosome Abnormality Panel
Sex Determination / Ambiguous Genitalia FISH Probe Study
SH2D1A sequence analysis
SLC26A4 sequence analysis
Small B-Cell NHL FISH Panel
Smith-Magenis FISH Probe Study
SNP Microarray testing
Solid Tumor / Lymph Node Cell Culture Only
Solid Tumor Chromosome Analysis
Sotos Syndrome FISH Probe Study
Storage/ Freezing Down of Cultured Cells
Subtelomere Analysis FISH Probe Study
Subtelomere FISH Panel
STX11 sequence analysis
T
Tamoxifen 2D6 genotyping analysis
Thawing and Expansion of Frozen Cells
Thrombophilic Polymorphism Panel
Tissue Cell Culture Only
Tissue Chromosome Analysis
Trisomy 13 FISH Probe Study
Trisomy 21 FISH Probe Study
Twin zygosity studies
U
UNC13Dsequence analysis
Usher syndrome type 1
VCF / DiGeorge Region FISH Probe Study
VLCAD-Very-Long-Chain Acyl Co-A Dehydrogenase Deficiency
Williams Syndrome FISH Probe Study
Wiskott-Aldrich Syndrome (WAS) sequence analysis
Wolf-Hirschhorn Syndrome FISH Probe Study
X-linked Hyper IgM Syndrome (XHM)
X-linked Ichthyosis / Steroid Sulfatase Deficiency FISH Probe Study
X-linked Immune Dysregulation, Polyendocrinopathy, Enteropathy Syndrome (IPEX)
X-linked Lymphoproliferative Disease (XLP)
- SH2D1A sequence analysis
- BIRC4 sequence analysis
X-linked Severe Combined Immunodeficiency (XSCID)
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