Molecular Genetics Laboratory Services

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:

Acid-Maltase Deficiency--Pompe Disease

Alagille Syndrome 1

Alpha-1-Antitrypsin deficiency (AIAT)

Alpha-Galactosidase A Deficiency (GLA deficiency)--Fabry Disease

Angelman Syndrome

ABCB4 

ABCB11 

ATP8B1 

Autoimmune lymphoproliferative syndrome (types Ia and 0)

Bcr-abl and PML-RARalpha by RT-PCR

Benign Recurrent intrahepatic cholestasis type 1 (BRIC1)

Benign Recurrent intrahepatic cholestasis type 2 (BRIC2)

Benign Recurrent intrahepatic cholestasis type 3 (BRIC3)

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

Cadherin 23 (CDH23)

CD40 Ligand (X-linked hyper IgM syndrome)

CD154 (X-linked hyper IgM syndrome)

Connexin 26 (DFNB1 related deafness)

Connexin 30

Cystic Fibrosis Carrier Screening

Deafness (see hearing loss)

Drug Metabolism Testing (see pharmacogenetic testing)

ELA2

Fabry Disease (GAA deficiency)

Factor V Leiden (see also Thrombophilic Panel)

FAS (autoimmune lymphoproliferative syndrome)

FIC1

FOXP3 (IPEX syndrome)

Fragile X Syndrome

Gaucher Disease (GBA deficiency)

HAX1

Hearing Loss

Hemophagocytic lymphohistiocytosis (familial)

Hereditary Hemochromatosis

Hereditary Liver Disease Testing

Hunter syndrome (MPS II)

Iduronate 2-sulfatase (IDS) deficiency

IL2RG (X-linked severe combined immunodeficiency)

IPEX (X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome)

JAG1

JaundiceChip resequencing array

             (Includes analysis of the following genes:  ATP8B1, ABCB11, ABAB4, JAG1 and SERPINA1)

MCAD-Medium chain acyl Co-A dehydrogenase deficiency

MECP2 (Rett syndrome and its variants)

MDR3 (protein class III multidrug resistance P-glycoprotein)

Mitochondrial mutations analysis for deafness

MPS II (Hunter syndrome)

MUNC13-4 (familial  hemophagocytic lymphohistiocytosis)

MYO7A

OTOF (otoferlin)

Pendred syndrome

Pharmacogenetic testing

Pompe Disease (GSD-II)

Prader-Willi Syndrome

  • DNA methylation

PRF1 (familial hemophagocytic lymphohistiocytosis)

Progressive Familial Intrahepatic Cholestasis type 1 (PFIC1)

Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2)

Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3)

Rett syndrome  and its variants (MECP2)

Serpina 1

Severe congenital neutropenia and cyclic neutropenia

  • ELA2
  • HAX1
  • WAS

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)

  • SH2D1A
  • BIRC4

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.