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1:20:03 AM
 
 
  • Search for a Test by Disorder

    Show All

    Fanconi Anemia

    • Fanconi Anemia: FANCA | FANCC | FANCG | Test Requisition

    Fatty Acid Oxidation

    • 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMG-CoA lyase) deficiency: HMGCL* | MetaboSeq | Test Requisition
    • 17-beta-hydroxysteroid dehydrogenase X (HSD10) deficiency: HSD17B10*  | MetaboSeq | Test Requisition 
    • Acyl-CoA Dehydrogenase-9 (ACAD9) deficiency: ACAD9*  | MetaboSeq | Test Requisition 
    • Barth Syndrome: TAZ*  | MetaboSeq | Test Requisition
    • Carnitine Palmitoyltransferase deficiency: CPT1A* | CPT2 | MetaboSeq | Test Requisition
    • Carnitine-acylcarnitine translocase (CACT) deficiency: SLC25A20*  | MetaboSeq | Test Requisition
    • Congenital Hyperinsulinemic Hyperammonemia (HI / HA) syndrome: GLUD1*  | MetaboSeq | Test Requisition
    • Familial partial lipodystrophy type 3: PPARG*  | MetaboSeq | Test Requisition
    • Familial Isolated Non-Compaction of the Left Ventricular Myocardium: TAZ*  | MetaboSeq | Test Requisition
    • General trifunctional protein (TFP) deficiency: HADHA | HADHB* | MetaboSeq | Test Requisition
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency: HADHA | HADHB* | MetaboSeq | Test Requisition
    • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: ACADM | MetaboSeq | Test Requisition
    • Multiple Acyl-CoA Dehydrogenation (MAD) deficiency:  ETFA* | ETFB* | ETFDH* | MetaboSeq | Test Requisition
    • Peroxisome proliferator-activated receptor gamma (PPAR-g) ligand resistance syndrome (PLRS): PPARG*  | MetaboSeq | Test Requisition
    • Primary carnitine deficiency: SLC22A5 | MetaboSeq | Test Requisition
    • Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency: HADH* | MetaboSeq | Test Requisition
    • Short-chain acyl-CoA dehydrogenase (SCAD) deficiency:  ACADS* | MetaboSeq | Test Requisition
    • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency: ACADVL | MetaboSeq | Test Requisition

    Genetic Pharmacology

    • CYP2C19 | Test Requisition
    • CYP2D6 | Test Requisition
    • Tamoxifen CYP2D6 Genotyping | Test Requisition
    • TPMT | Test Requisition
    • VKORC1 | Test Requisition
    • Warfarin CYP2C9 and VKROC1 Genotyping | Test Requisition

    Hearing Loss

    • Aminoglycoside-induced ototoxicity: MTRNR1 | Hearing Loss Panel Tier I | Test Requisition
    • AUNB1: OTOF | OtoSeq | Test Requisition
    • Branchiootorenal spectrum disorder: EYA1 | SIX1* | SIX5* | BOR / BOS | OtoSeq | Test Requisition
    • DFN3: POU3F4* | OtoSeq | Test Requisition
    • DFNA22: MYO6* | OtoSeq | Test Requisition 
    • DFNA36: TMC1* | OtoSeq | Test Requisition
    • DFNA3A: GJB2 | Hearing Loss Panel Tier I | OtoSeq | Test Requisition
    • DFNA3B: GJB6 | Hearing Loss Panel Tier I | OtoSeq | Test Requisition
    • DFNB12: CDH23 | Usher Panel | OtoSeq | Test Requisition
    • DFNB1A: GJB2 | Hearing Loss Panel Tier I | OtoSeq | Test Requisition
    • DFNB1B: GJB6 | Hearing Loss Panel Tier I | OtoSeq | Test Requisition
    • DFNB37: MYO6* | OtoSeq | Test Requisition
    • DFNB4:  KCNJ10* | Pendred Panel | OtoSeq | Test Requisition
    • DFNB4: SLC26A4 | Pendred Panel | OtoSeq | Test Requisition
    • DFNB6: TMIE* | OtoSeq | Test Requisition
    • DFNB7/11: TMC1* | OtoSeq | Test Requisition
    • DFNB8/10: TMPRSS3* | OtoSeq | Test Requisition
    • DFNB9: OTOF | OtoSeq | Test Requisition
    • DFNX2: POU3F4* | OtoSeq | Test Requisition
    • Nonsyndromic hearing loss (mitochondrial): MTTS1 | MTRNR1 | Hearing Loss Panel Tier I | Test Requisition
    • Pendred Syndrome: SLC26A4 | FOXI1* | KCNJ10* | Pendred Panel | OtoSeq | Test Requisition 
    • SeSAME Syndrome: KCNJ10* | Pendred Panel | OtoSeq | Test Requisition 
    • Usher syndrome type 1:  MYO7A | CDH23 | PCDH15* | USH1C* | USH1G* | Usher Panel | OtoSeq | Test Requisition
    • Usher syndrome type 2: USH2A* | WHRN* | GPR98* | Usher Panel | OtoSeq | Test Requisition
    • Usher syndrome type 3A: CLRN1* | Usher Panel | OtoSeq | Test Requisition 

    Hemoglobinopathies

    • Alpha globin disorders: HBA1 | HBA2 | Test Requisition
    • Beta globin disorders: HBB | Test Requisition

    Hereditary Immunodeficiency

    • Autoimmune lymphoproliferative syndrome (ALPS): FAS | FASLG | CASP10 | Test Requisition
    • Griscelli Syndrome type 2: RAB27A | Test Requisition
    • Familial Hemophagocytic Lymphohistiocytosis (FHL): PRF1 | MUNC13-4 | STXBP2 | RAB27A | STX11 | Test Requisition
    • ITK deficiency: ITK | Test Requisition
    • Kostman Syndrome: HAX1 | Test Requisition
    • Shwachman-Diamond Syndrome: SBDS | Test Requisition
    • Severe congenital neutropenia / Cyclic neutropenia: ELA2 | HAX1 | Test Requisition
    • Wiskott-Aldrich Syndrome: WAS | Test Requisition
    • X-linked hyper IgM immunodeficiency syndrome (HIGM1): CD40LG | Test Requisition
    • X-linked immune disregulation, polyendocrinopathy, enteropathy syndrome (IPEX): FOXP3 | Test Requisition
    • X-linked immunodeficiency with magnesium defect, EBC infection and neoplasia (XMEN syndrome): MAGT1 | Test Requisition
    • X-linked lymphoproliferative disease (XLP): BIRC4 | SH2D1A | Test Requisition
    • X-linked Severe Combined Immunodeficiency (XSCID):  IL2RG | Test Requisition

    Intellectual Disability

    • AGAT Deficiency | Test Requisition
    • Angelman Syndrome | Test Requisition
    • Creatine deficiency: GAMT | GATM | SLC6A8 | Test Requisition
    • Fragile X Syndrome: FMR1 | Test Requisition
    • Prader-Willi Syndrome | Test Requisition
    • Rett syndrome: MECP2 | Test Requisition

    Liver Diseases

    • Alagille Syndrome: JAG1 | JaundiceChip | Test Requisition
    • Alpha-1-Antitrypsin Deficiency (A1AT): SERPINA1 | JaundiceChip | Test Requisition
    • Benign Recurrent Intrahepatic Cholestasis Type 1: ATP8B1 | JaundiceChip | Test Requisition
    • Benign Recurrent Intrahepatic Cholestasis Type 2: ABCB11 | JaundiceChip | Test Requisition
    • BSEP Deficiency: ABCB11 | JaundiceChip | Test Requisition
    • Progressive Familial Intrahepatic Cholestasis Type 1: ATP8B1 | JaundiceChip | Test Requisition
    • Progressive Familial Intrahepatic Cholestasis Type 2: ABCB11 | JaundiceChip | Test Requisition
    • Progressive Familial Intrahepatic Cholestasis Type 3: ABCB4 | JaundiceChip | Test Requisition

    Lysosomal Storage Diseases

    • Alpha-galactosidase A Deficiency: GLA | Test Requisition
    • Cystinosis: CTNS | Test Requisition
    • Fabry Disease: GLA | Test Requisition
    • Gaucher Disease: GBA | Test Requisition
    • Hunter Syndrome: IDS | Test Requisition
    • Mucopolysaccharidosis type II (MPS II): IDS | Test Requisition
    • Pompe Disease: GAA | Test Requisition

    Mitochondrial Disorders

    • Alpers-Huttenlocher Syndrome: POLG1 | Test Requisition
    • Ataxia neuropathy spectrum (ANS): POLG1 | Test Requisition
    • Childhood myocerebrohepatopathy spectrum (MCHS): POLG1 | Test Requisition
    • Inclusion body myopathy with Paget disease and / or frontotemporal dementia (IBMPFD): VCP | Test Requisition
    • Kearns-Sayre Syndrome: mtDNA sequencing and deletion / duplication analysis | Test Requisition
    • Leber Hereditary Optic Neuropathy: mtDNA sequencing and deletion / duplication analysis | Test Requisition
    • Leigh Syndrome: mtDNA sequencing and deletion / duplication analysis | Test Requisition
    • Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): mtDNA sequencing and deletion / duplication analysis | Test Requisition
    • Myoclonic epilepsy, myopathy and sensory ataxia (MEMSA): POLG1 | Test Requisition
    • Myoclonic epilepsy with ragged-red fibers (MERRF):  mtDNA sequencing and deletion / duplication analysis | Test Requisition
    • Neurogenic weakness with ataxia and retinitis pigmentosa (NARP): POLG1 | Test Requisition
    • Pearson marrow pancreas syndrome: mtDNA sequencing and deletion / duplication analysis | Test Requisition
    • Progressive external ophthalmoplegia (autosomal dominant / recessive): POLG1 | Test Requisition
    • Progressive external ophthalmoplegia (sporadic): mtDNA sequencing and deletion / duplication analysis | Test Requisition

    Oncology

    • Leukemia, Chronic myeloid (CML) and Acute lymphoblastic (ALL):  BCR / ABL Qualitative and Quantitative Analysis | Test Requisition
    • Leukemia, Acute Myeloid: NPM1 Mutation Assay | Test Requisition
    • Myeloproliferative Disorders: JAK2 V617F Mutation Assay | Test Requisition
    • PML / RARa Translocation Assay | Test Requisition

    Engraftment Monitoring and Zygosity

    • Bone Marrow Engraftment | Test Requisition
    • Twin Zygosity Studies | Test Requisition

    Thrombophilic Conditions

    • Factor V Leiden: Factor V Leiden | Test Requisition
    • Hereditary Hemochromatosis: HFE | Test Requisition
    • Thrombophilia: Factor V Leiden | Prothrombin | MTHFR | PAI-1* | Thrombophilic Polymorphism Panel | Test Requisition

     


 
  • Tests Offered

    The Molecular Genetics Laboratory at Cincinnati Children's 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.  

    You may search on this page for a test by disorder. Or you may search for a test by gene name here.

    Download the appropriate test requisition from the list below.

  • Test Requisition Forms

    • Fanconi Anemia
    • Fatty Acid Oxidation Defects
    • Genetic Pharmacology
    • Hearing Loss
    • Hemoglobin Genetic Testing
    • Hereditary Immunodeficiency
    • Hereditary Liver Disease
    • Mitochondrial Disorders
    • Oncology
    • Lysosomal Disease
    • Molecular Genetics All Tests
  • Search for a test.

    Search all tests offered by the Clinical Laboratories at Cincinnati Children's.

    Search for a test.
 
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