Genetics and Genomics Diagnostic Lab

By Disorder

• Autoimmune lymphoproliferative syndrome (ALPS): Autoimmune Lymphoproliferative Syndrome Gene Sequencing Panel |  FAS | FASLG | CASP10 | Test Requisition
• X-linked immune dysregulation, polyendocrinopathy enteropathy syndrome (IPEX): FOXP3 | Test Requisition

> Download ALPS test algorithm

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

• Bone Marrow Engraftment | Test Requisition
• Maternal Cell Contamination | Test Requisition
• Maternal Engraftment | Test Requisition
• Twin Zygosity Studies | Test Requisition

• 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

• Circadian and Complex Sleep Disorders Gene Sequencing Panel | Test Requisition

• Cleft and Craniofacial Gene Panel | Pediatric and Adult Test Requisition | Prenatal Test Requisition | Test Information
• Stickler Syndrome Gene Panel | Pediatric and Adult Test Requisition | Prenatal Test Requisition | Test Information
• Treacher-Collins Syndrome and Mandibulofacial Dysostosis Gene Panel | Pediatric and Adult Test Requisition | Prenatal Test Requisition | Test Information

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

• 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

• 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
• TPMT | Test Requisition
• Warfarin | Test Requisition
• 6-mercaptopurine | Test Requisition
• 6-thioguanine | Test Requisition

• 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 
• Stickler Syndrome Gene Panel | Test Requisition | Test Information
• Treacher-Collins Syndrome and Mandibulofacial Dysostosis Gene Panel | Test Requisition | Test Information
• 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 

• 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
• Erythrocytosis Gene Sequencing Panel | 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

• Platelet Disorders Gene Sequencing Panel | Test Requisition

• Red Blood Cell Enzymopathies | Test Requisition
• Red Blood Cell Membrane Disorders (spherocytosis, elliptocytosis, stomatocytosis)  | Test Requisition
• Thrombocytosis Gene Sequencing Panel | Test Requisition
• Thrombophilia: Factor V Leiden | Prothrombin |  PAI-1* |  Thrombophilic Polymorphism Panel | Test Requisition
• Atypical Hemolytic Uremic Syndrome (aHUS)  |  Test Requisition
• Thrombotic Thrombophilia Purpura  |  Test Requisition

• 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 

• AGAT Deficiency | Test Requisition
• Angelman Syndrome | Test Requisition
• Creatine deficiency: GAMT | GATM | SLC6A8 | Test Requisition
• Fragile X Syndrome: FMR1 | Test Requisition

• Neurodevelopmental Reflex Algorithm: Microarray, Fragile X, MECP2, PTEN reflex based on head circumference and sex | Test requisition

• Prader-Willi Syndrome | Test Requisition
• PTEN: Autism Spectrum Disorder | Test Requisition
• Rett syndrome: MECP2 | Test Requisition
• Rubinstein-Taybi Syndrome | Test Requisition

• 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
• 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

• Liver Disease 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

• 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

• 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

• 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
• Myoclonic epilepsy, myopathy and sensory ataxia (MEMSA): POLG1 | Test Requisition
• Neurogenic weakness with ataxia and retinitis pigmentosa (NARP): POLG1 | Test Requisition
• Progressive external ophthalmoplegia (autosomal dominant / recessive): POLG1 | Test Requisition

• Neurovascular Diseases and Stroke Gene Panel | Test Requisition

• Langerhans cell histiocytosis (LCH): MAP2K1 mutations | Test Requisition
• BCR/ABL1 analysis: BCR / ABL1 Qualitative and Quantitative Analysis | Test Requisition
• Myeloproliferative Disorders: JAK2 V617F Mutation Assay | Test Requisition
• PML / RARa Translocation Assay | Test Requisition
• PTEN: Tumor Syndrome | Test Requisition

• Pancreas Panel | Test Requisition
• Pancreatic Insufficiency Panel | Test Requisition
• Shwachman Diamond Syndrome: SBDS | Test Requisition

• 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

• Immunology Exome | 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