Division of Human Genetics Diagnostic Laboratories

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Autoimmune Disorders

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Autoimmune lymphoproliferative syndrome (ALPS): ALPS Panel by NGS | FAS | FASLG | CASP10 | Test Requisition
X-linked immune dysregulation, polyendocrinopathy enteropathy syndrome (IPEX): FOXP3 | Test Requisition

> Download ALPS test algorithm

Bone Marrow Failure Syndromes

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Amegakaryocytic thrombocytopenia (AMEGA or CAMT): Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
Bone Marrow Failure: Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
Cyclic Neutropenia: ELA2 | Inherited Neutropenia Panel by NGS | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
Diamond Blackfan anemia: Diamond Blackfan Anemia Panel by NGS | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
Dyskeratosis Congenita: Dyskeratosis Congenita Panel by NGS | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
Fanconi anemia: Fanconi Anemia Panel by NGS | FANCA | FANCC | FANCG | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
Kostman disease: HAX1 | Inherited Neutropenia Panel by NGS | Bone Marrow Failure Syndrome Panel by NGS | Test Requisition
Severe congenital neutropenia: Inherited Neutropenia Panel by NGS | Bone Marrow Failure Syndrome Panel by NGS | ELA2 | HAX1 | Test Requisition
Shwachman Diamond Syndrome: SBDS | Bone Marrow Failure Syndrome Panel by NGS | Inherited Neutropenia Panel by NGS | Test Requisition

Chromosome Breakage Disorders

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Ataxia-Telangiectasia: Chromosome Breakage Disorders Panel | Test Requisition
Bloom syndrome: Chromosome Breakage Disorders Panel | Test Requisition
Cernunnos / NHEJ1 deficiency: Chromosome Breakage Disorders Panel | Test Requisition
DNA ligase IV deficiency / LIG4 syndrome:Chromosome Breakage Disorders Panel | Test Requisition
Fanconi anemia: FANCA | FANCC | FANCG | Fanconi Anemia Panel | Test Requisition
Nijmegen breakage syndrome: Chromosome Breakage Disorders Panel | Test Requisition

Engraftment Monitoring and Zygosity

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

Epidermolysis Bullosa

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EB Simplex | EBSeq | Test Requisition
Junctional EB | EBSeq | Test Requisition
Dystrophic EB | EBSeq | Test Requisition
Kindler Syndrome | EBSeq | Test Requisition

Fatty Acid Oxidation

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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

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Azathioprine | Test Requisition
CYP2C19 | Test Requisition
CYP2C9 | Test Requisition
CYP2D6 | Test Requisition
Opioid CYP2D6 Pharmacogenetics Panel | Test Requisition
Phenytoin | Test Requisition
Psychiatry Pharmacogenetics Expanded Panel | Test Requisition
Tamoxifen | Test Requisition
TPMT | Test Requisition
Warfarin | Test Requisition
6-mercaptopurine | Test Requisition
6-thioguanine | Test Requisition

Hearing Loss

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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

Hematologic Disorders

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Alpha globin disorders: HBA1 | HBA2 | Test Requisition
Beta globin disorders: HBB | Test Requisition
Delta globin disorders: HBD | Test Requisition
Gamma globin disorders: HBG1 | HBG2 | Test Requisition
Congenital Dyserythropoietic Anemia (CDA) | Test Requisition
Dense Deposit Disease/C3 Glomerulonephritis | Test Requisition
Factor V Leiden: Factor V Leiden | Test Requisition
Hereditary Hemochromatosis: HFE | Test Requisition
GLUT1 deficiency | Test Requisition
Hereditary Hemolytic Anemia | Testing Algorithm | Test Requisition
McLeod Neuroacanthocytosis Syndrome | Test Requisition
Red Blood Cell Enzymopathies | Test Requisition
Red Blood Cell Membrane Disorders (spherocytosis, elliptocytosis, stomatocytosis) | Test Requisition
Thrombophilia: Factor V Leiden | Prothrombin | MTHFR | PAI-1* | Thrombophilic Polymorphism Panel | Test Requisition
Atypical Hemolytic Uremic Syndrome (aHUS) | Test Requisition
Thrombotic Thrombophilia Purpura | Test Requisition

Hemophagocytic Lymphohistiocytosis

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Familial Hemophagocytic Lymphohistiocytosis (FHL): HLH Panel by NGS | PRF1 | UNC13D | STX11 | STXBP2 | RAB27A | Test Requisition
Chediak-Higashi Syndrome: HLH Panel by NGS | Test Requisition
Hermansky-Pudlak syndrome type 2 and 9: HLH Panel by NGS | Test Requisition
Lysinuric Protein Intolerance: HLH Panel by NGS | Test Requisition
ITK deficiency: ITK | HLH Panel by NGS | Test Requisition
X-linked lymphoproliferative disease 1 (XLP1): SH2D1A | HLH Panel by NGS | Test Requisition
X-linked lymphoproliferative disease 2 (XLP2): BIRC4 | HLH Panel by NGS | Test Requisition

> Download HLH test algorithm

Intellectual Disability

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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
PTEN: Autism Spectrum Disorder | Test Requisition
Rett syndrome: MECP2 | Test Requisition

Liver Diseases

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Alagille Syndrome: JAG1 | Test Requisition
Alpha-1-Antitrypsin Deficiency (A1AT): SERPINA1| SERPINA1 SNP Genotyping | Test Requisition
Benign Recurrent Intrahepatic Cholestasis Type 1: ATP8B1 | Test Requisition
Benign Recurrent Intrahepatic Cholestasis Type 2: ABCB11 | Test Requisition
Bile Acid Defects Panel by Next-Generation Sequencing | Test Requisition
BSEP Deficiency: ABCB11 | Test Requisition
Cholestasis Panel by Next-Generation Sequencing | Test Requisition
Cystic Disease of the Liver/Kidney Panel by Next-Generation Sequencing | Test Requisition
Familial Hypercholanemia: BAAT | Test Requisition
Gilbert, Crigler-Najjar Syndromes (UGT1A1) by Next-Generation Sequencing | Test Requisition
Jaundice Panel by Next-Generation Sequencing | Test Requisition
Progressive Familial Intrahepatic Cholestasis Type 1: ATP8B1 | Test Requisition
Progressive Familial Intrahepatic Cholestasis Type 2: ABCB11 | Test Requisition
Progressive Familial Intrahepatic Cholestasis Type 3: ABCB4 | Test Requisition
Progressive Familial Intrahepatic Cholestasis Type 4/Familial Hypercholanemia: TJP2 | Test Requisition
Wilson Disease (ATP7B) by Next-Generation Sequencing | Test Requisition

Lymphoproliferative Disorders

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Autoimmune lymphoproliferative syndrome (ALPS): ALPS Panel by NGS | FAS | FASLG | CASP10 | Test Requisition
ITK deficiency: ITK | HLH Panel by NGS | ALPS Panel by NGS | Test Requisition
X-linked immunodeficiency with magnesium defect, EBC infection and neoplasia (XMEN syndrome): MAGT1 | HLH Panel by NGS | ALPS Panel by NGS | Test Requisition
X-linked lymphoproliferative disease 1 (XLP1): SH2D1A | HLH Panel by NGS | Test Requisition
X-linked lymphoproliferative disease 2 (XLP2): BIRC4 | HLH Panel by NGS | Test Requisition

Lysosomal Storage Diseases

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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

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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

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BCR/ABL analysis: ABL1 kinase domain mutation analysis | Test Requisition
BRAF: BRAF V600E by real-time PCR, BRAF (V600E) mutation only by Sanger sequencing, BRAF full gene sequence analysis | Test Requisition
Langerhans cell histiocytosis (LCH): BRAF (V600E) and MAP2K1 mutations | Test Requisition
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
PTEN: Tumor Syndrome | Test Requisition

Pancreatic Diseases

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Primary Immunodeficiencies

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Calcium++ channel deficiency: SCID and T Cell Disorders Panel | Test Requisition
Cartilage hair hypoplasia: SCID and T Cell Disorders Panel | Test Requisition
DiGeorge syndrome (TBX1): SCID and T Cell Disorders Panel | Test Requisition
DNA ligase IV deficiency/LIG4 syndrome: SCID and T Cell Disorders Panel | Chromosome Breakage Disorders Panel | Test Requisition
Nijmegen breakage syndrome: Chromosome Breakage Disorders Panel | Test Requisition
Cernunnos/NHEJ1 deficiency: SCID and T Cell Disorders Panel | Chromosome Breakage Disorders Panel | Test Requisition
Omenn syndrome: SCID and T Cell Disorders Panel | Test Requisition
Purine nucleoside phosphorylase deficiency: SCID and T Cell Disorders Panel | Test Requisition
Severe Combined Immunodeficiency: SCID and T Cell Disorders Panel | Test Requisition
STAT5b deficiency: SCID and T Cell Disorders Panel | Test Requisition
Wiskott-Aldrich Syndrome: WAS | Test Requisition
X-linked hyper IgM immunodeficiency syndrome (HIGM1): CD40LG | Test Requisition
X-linked Severe Combined Immunodeficiency (XSCID): IL2RG | SCID and T Cell Disorders Panel | Test Requisition
ZAP70 deficiency: SCID and T Cell Disorders 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

Clinical Laboratory Index

View all tests offered by Cincinnati Children’s.

Division of Human Genetics Diagnostic Laboratories

Division of Human Genetics Diagnostic Laboratories

Search for a Test by Disorder

Tests Offered

Test Requisition Forms

Clinical Laboratory Index

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