Division of Human Genetics Diagnostic Laboratories

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.

All tests include full gene sequencing of the coding exons and exon/intron boundaries unless otherwise specified.  Please follow the links below for specific information about your test of interest. Download the appropriate test requisition from the Test Requisition Forms list on the right.

• ABCB4
• ABCB11
• ACADM
• ACADVL
• Acid-Maltase Deficiency - Pompe Disease
• AGAT deficiency
• Alagille Syndrome
• JAG1 
• Alpha-1-Antitrypsin deficiency (AIAT)
• Alpha-Galactosidase A Deficiency (GLA deficiency) - Fabry Disease
• Angelman Syndrome
• ATP8B1
• Autoimmune lymphoproliferative syndrome
• BCR/ABL t(9;22) translocation assay by PCR
• BCR/ABL Quantitative Assay
• Benign Recurrent intrahepatic cholestasis type 1 (BRIC1)
• Benign Recurrent intrahepatic cholestasis type 2 (BRIC2)
• BIRC4 (X-linked lymphoproliferative disease)
• Bone Marrow Engraftment Studies
• "Bone Marrow Engraftment Studies on WBC subpopulations"
• BSEP (Bile Salt Export Pump deficiency)
• CDH23
• CASP10
• CD40 Ligand (HIGM1)
• CD154 Ligand (HIGM1)
• Connexin 26 (DFNB1 related deafness)
• Connexin 30 (DFNB1 related deafness)
• Creatine deficiency disorders
• Cyclic neutropenia
• Deafness (see hearing loss)
• Drug Metabolism Testing (see pharmacogenetic testing)
• ELA2 (ELANE)
• Fabry Disease (GAA deficiency)
• Factor V Leiden (see also Thrombophilic Panel)
• Familial hemophagocytic lymphohistiocytosis
• Fanconi Anemia
• FAS
• FASLG
• FIC1 (familial intrahepatic cholestasis type 1 protein)
• FOXP3
• Fragile X Syndrome
• GAMT
• GATM (AGAT deficiency)
• Gaucher Disease (GBA deficiency)
• Griscelli syndrome type 2
• HAX1
• Hearing Loss Panel-Tier I
• Hearing Loss Panel-Tier II
• Hemophagocytic lymphohistiocytosis (familial)
• Hereditary hemochromatosis
• HIGM1
• Hunter syndrome (MPS II)
• Iduronate 2-sulfatase (IDS) deficiency
• IL2RG
• IPEX (X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome)
• ITK deficiency
• JAG1
• JAK 2 (V617F) Quantitative assay
• Jaundice Chip resequencing array
• MCAD-Medium chain acyl Co-A dehydrogenase deficiency
• MDR3 (multidrug resistance P-glycoprotein class III)
• MECP2
• Mitochondrial mutations analysis for deafness
• MPS II (Hunter syndrome)
• MT-RNR1
• MT-TS1
• MUNC13-4
• MYO7A
• NPM1 mutation assay
• OTOF (otoferlin)
• Pendred syndrome
• Pharmacogenetic testing
• PML/RARα t(15;17) translocation assay  by PCR
• Pompe Disease (GSD-II)
• Prader-Willi Syndrome; DNA methylation
• PRF1
• Progressive Familial Intrahepatic Cholestasis type 1 (PFIC1)
• Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2)
• Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3)
• RAB27A
• Rett syndrome and its variants
• SBDS (Shwachman-Diamond syndrome)
• SERPINA1
• Severe congenital neutropenia
• SH2D1A
• SLC6A8
• SLC26A4
• STX11
• STXBP2
• Tamoxifen CYP2D6 genotype analysis
• Thrombophilic Polymorphism Panel
• Twin zygosity studies
• VLCAD - Very long chain acyl Co-A dehydrogenase deficiency
• Warfarin CYP2C9 and VKORC1 genotyping
• (WAS) Wiskott-Aldrich syndrome
• XIAP
• X-linked hyper IgM syndrome (HIGM1)
• X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (IPEX)
• X-linked lymphoproliferative disease (XLP)
• X-linked severe combined immunodeficiency (XSCID)