Diagnostic Tests Offered
The Molecular Genetics Laboratory at Cincinnati Children's Hospital Medical Center performs a variety of tests for patients of all ages. Doctors need not be affiliated with Cincinnati Children's to order tests.
The Molecular Genetics Laboratory currently offers the following genetic tests:
Alpha-1-Antitrypsin deficiency (AIAT)
BSEP1 (Bile Salt Export Pump deficiency type 1)
BSEP2 (Bile Salt Export Pump deficiency type 2 )
BSEP3 (Bile Salt Export Pump deficiency type 3)
BIRC4 (X-linked lymphoproliferative disease)
Bone Marrow Engraftment Studies
- BME by STR
- SCT-BME for sub-cell type
CD154 (X-linked hyper IgM syndrome)
Connexin 26 (DFNB1 related deafness)
Deafness (see hearing loss)
Hearing Loss
Hereditary Liver Disease Testing
IL2RG (X-linked severe combined immunodeficiency)
(Includes analysis of the following genes: ATP8B1, ABCB11, ABAB4, JAG1 and SERPINA1)
MDR3 (protein class III multidrug resistance P-glycoprotein)
MUNC13-4 (familial hemophagocytic lymphohistiocytosis)
PRF1 (familial hemophagocytic lymphohistiocytosis)
Rett syndrome and its variants (MECP2)
Serpina 1
Severe congenital neutropenia and cyclic neutropenia
Syntaxin 11 (familial hemophagocytic lymphohistiocytosis)
Thrombophilic Polymorphism Panel
Twin zygosity studies
VLCAD-Very long chain acyl Co-A dehydrogenase deficiency
Wiskott-Aldrich Syndrome (WAS)
X-linked hyper IgM syndrome (XHM)
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (IPEX)
X-linked lymphoproliferative disease (XLP)
X-linked severe combined immunodeficiency (XSCID)
Contact Us
For more information about Molecular Genetics Laboratory Services, please call 513-636-4474 or send an email to moleculargenetics@cchmc.org.