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Molecular Genetics Laboratory Services

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Diagnostic Tests Offered

The Division of Human Genetics and Diagnostic Laboratories at Cincinnati Children's helps you fit the pieces together.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.

The Molecular Genetics Laboratory currently offers the following genetic tests:

ABCB4 

ABCB11 

ACADM 

ACADVL 

Acid-Maltase Deficiency--Pompe Disease

Alagille Syndrome

Alpha-1-Antitrypsin deficiency (AIAT)

  • S/Z alleles determination only
  • full gene sequence analysis

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

Angelman Syndrome

ATP8B1

Autoimmune lymphoproliferative syndrome 
  • FAS full gene sequence analysis (ALPS types IA and O) 
  • FASLG full gene sequence analysis (ALPS type Ib) 
  • CASP10 full gene sequence analysis (ALPS type II) 
  • Somatic mutation analysis (by prior arrangement only)

Bcr-abl and PML-RAR by RT-PCR

BCR-ABL Quantitative Assay

Benign Recurrent intrahepatic cholestasis type 1 (BRIC1)

Benign Recurrent intrahepatic cholestasis type 2 (BRIC2)

BSEP (Bile Salt Export Pump deficiency)

BIRC4 (X-linked lymphoproliferative disease)

Bone Marrow Engraftment Studies

  • BME by STR
  • SCT-BME for sub-cell type

Cadherin 23 (CDH23)

Caspase 10 (CASP10) (ALPS II) 

CD40 Ligand (X-linked hyper IgM syndrome)

CD154 (X-linked hyper IgM syndrome)

Connexin 26 (DFNB1 related deafness)

Connexin 30 (DFNB1 related deafness)

Deafness (see hearing loss)

Drug Metabolism Testing (see pharmacogenetic testing)

ELA2 (severe congenital neutropenia and cyclic neutropenia

Fabry Disease (GAA deficiency)

Factor V Leiden (see also Thrombophilic Panel)

Familial Hemophagocytic Lymphohistiocytosis

  •  PRF1 (FHL2)
  • MUNC13-4 (UNC13D) (FHL3)
  • STX11 (FHL4)
  • STXBP2 (FHL5)
  • RAB27A (Griscelli syndrome, type 2)
  • STXBP2 (FHL5)

FAS  (ALPS Ia and 0)

FASLG (ALPS Ib) 

FIC1 deficiency (familial intrahepatic cholestasis type 1 protein)

FOXP3 (IPEX syndrome)

Fragile X Syndrome

Gaucher Disease (GBA deficiency)

Griscelli syndrome type 2   (RAB27A)

HAX1 (Kostmann syndrome)

Hearing Loss

 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

JAK2 (V617F) Quantitative Assay

JaundiceChip resequencing array

             (Includes analysis of the following genes:  ATP8B1, ABCB11, ABCB4, JAG1 and SERPINA1)

MCAD-Medium chain acyl Co-A dehydrogenase deficiency

  • K329E genotyping only
  • ACADM full gene sequence analysis
  • K329E genotyping with reflex to ACADM full gene sequence analysis, if indicated

MECP2 (Rett syndrome and its variants)

MDR3 deficiency (multidrug resistance P-glycoprotein class III)

Mitochondrial mutations analysis for deafness

MPS II (Hunter syndrome)

MUNC13-4 (familial  hemophagocytic lymphohistiocytosis)

MYO7A

NPM1 Mutation Assay

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)

RAB27A (Griscelli Syndrome type 2)

Serpina 1

Severe congenital neutropenia and cyclic neutropenia

  • ELA2
  • HAX1
  • WAS

STX11 (FHL4) 

STXBP2 (FHL5)

Thrombophilic Polymorphism Panel

Twin zygosity studies

VLCAD-Very long chain acyl Co-A dehydrogenase deficiency

Wiskott-Aldrich Syndrome (WAS)

X-Linked hyper IgM syndrome (CD40L)

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

X-linked lymphoproliferative disease (XLP)

  • SH2D1A
  • XIAP (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.