Genetic and Genomic Diagnostic Lab
Tests and Services

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Tests and Services Offered by the Genetic and Genomic Diagnostic Laboratory

We offer a broad range of genetic testing to support accurate diagnosis, personalized treatment, and informed decision-making. Our tests are developed and interpreted by a multidisciplinary team of experts, including nationally recognized, board-certified pediatric specialists, geneticists, and genetic counselors. Our tests combine state-of-the-art technology with clinical expertise. Below is an overview of the specialized tests we offer.
  • Atrial Fibrillation Panel 
  • Atrioventricular Block Panel 
  • Brugada Syndrome Panel 
  • Cardiac Channelopathy 
  • CPVT Panel
  • Long QT Syndrome Panel 
  • Short QT Syndrome Panel 
  • Arrhythmogenic Right Ventricular Cardiomyopathy Panel 
  • Comprehensive Cardiomyopathy Panel 
  • Dilated Cardiomyopathy Panel (DCM) 
  • Hypertrophic Cardiomyopathy Analysis (HCM) 
  • Left Ventricular Noncompaction Panel (LVNC) 
  • Restrictive Cardiomyopathy Panel (RCM) 
  • Congenital Heart Disease 
  • Heterotaxy V1 Panel 
  • Heterotaxy V2 Panel 
  • Noonan Spectrum Panel 
  • Prenatal Noonan Spectrum Disorders Panel 
  • Marfan Syndrome Panel (Sequencing) 
  • Thoracic Aortic Aneurysm Panel (TAA)
  • Pulmonary Arterial Hypertension (PAH) Panel
  • Single Gene Sequencing
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  • Bone Marrow Engraftment
  • Bone Marrow Engraftment, Sorted Cells
  • Maternal Engraftment
  • Maternal Cell Contamination
  • Twin Zygosity
  • Chromosome Analysis, Routine Blood
  • Chromosome Analysis, High Resolution Blood
  • Chromosome Analysis, Mosaicism Study (50 Cells)
  • Chromosome Analysis, Amniotic Fluid
  • Chromosome Analysis, Chorionic Villi
  • Chromosome Analysis, Products of Conception
  • Fanconi Anemia Chromosome Breakage Analysis
  • FISH Analysis for Specific Microdeletion Syndromes
  • Microarray Analysis, Constitutional
  • Microarray Analysis, Prenatal
  • Microarray Analysis, Products of Conception
  • Optical Genome Mapping
  • OtoSeq Hearing Loss Panel (23 genes)
  • Hearing Loss Panel − Tier I (GJB2, GJB6 and mitochondrial mutation panel) 
  • GJB2 (Connexin 26)
  • GJB6 (Connexin 30)
  • Mitochondrial Mutation Panel (12S rRNA and tRNAser)
  • Branchio-oto-renal Syndrome (BOR/BOS) Panel
  • Pendred Syndrome Panel
  • Pendred Syndrome, Single Gene (SLC26A4)
  • OTOF (Otoferlin)
  • CDH23 (Cadherin)
  • EYA1 
  • MYO7A (Myosin 7A)
  • Usher Syndrome Panel
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  • Hematologic Disorders
  • Globin Disorders
    • Comprehensive Alpha (HBA1/2) and Beta (HBB) Globin Gene Locus Analysis (Includes full gene sequencing and deletion/duplication analyses of both HBA1/2 and HBB genes)
    • Comprehensive Hereditary Persistence of Fetal Hemoglobin (HPFH) Gene Analysis (Includes HBG1/2 gene sequencing, HBB deletion/duplication analysis, and HPFH SNP analysis)
    • Alpha Globin: HBA1/2 Gene Sequencing
    • Alpha Globin: HBA1/2 Deletion/Duplication Analysis
    • Beta Globin: HBB Gene Sequencing
    • Beta Globin: HBB Deletion/Duplication Analysis
    • Delta Globin: HBD Gene Analysis
    • Gamma Globin: HBG1/2 Gene Sequencing
    • HPFH SNP Analysis: SNP's related to HPFH in BCL11A, HBS1L-MYB and KLF1
    • Known Familial Variant Analysis
  • Thrombophilia
    • Thrombophilic Polymorphism Panel: Factor V Leiden R508Q and Prothrombin G20210 Variants
    • Factor V Leiden (R506Q Variant)
    • Prothrombin (G20210 Variant)
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  • Autoimmune lymphoproliferative syndrome (ALPS) Panel
  • Bone Marrow Failure Syndromes Panel
  • Chromosome Breakage Disorders Panel
  • Diamond-Blackfan Anemia Panel
  • Dyskeratosis Congenita and Telomere Disorders Panel
  • Fanconi Anemia Panel
  • Hemophagocytic lymphohistiocytosis (HLH) Panel
  • Inherited Neutropenia Panel
  • Severe Combined Immunodeficiency (SCID) Panel
  • Shwachman-Diamond Syndrome: SBDS Gene Sequencing
  • Wiskott-Aldrich syndrome: WAS Gene Sequencing
  • X-linked Immune Dysregulation, Polyendocrinopathy Enteropathy Syndrome (IPEX): FOXP3 Gene Sequencing
  • X-linked Lymphoproliferative Disease Type 1 (XLP1): SH2D1A Gene Sequencing
  • X-linked Lymphoproliferative Disease Type 2 (XLP2): XIAP (BIRC4) Gene Sequencing
  • X-linked Severe Combined Immunodeficiency (XSCID):  IL2RG Gene Sequencing
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  • Inborn Errors of Metabolism Testing
  • Lysosomal Storage Diseases
    • Cystinosis: CTNS Gene Sequencing
    • Cystinosis: CTNS 57-kb Deletion Analysis
    • Fabry Disease: GLA Gene Sequencing
    • Fabry Disease: GLA Deletion/Duplication Analysis
    • Gaucher Disease: GBA Gene Sequencing
    • Mucopolysaccharidosis type II (MPS II): IDS Gene Sequencing
    • Mucopolysaccharidosis type II (MPS II): IDS Deletion/Duplication Analysis
    • Pompe Disease: GAA Gene Sequencing
    • Pompe Disease: GAA Deletion/Duplication Analysis
  • Liver Disease Panel  (72 genes)
  • Jaundice Panel  (5 genes)
  • Cystic Diseases of the Liver/Kidney Panel  (9 genes)
  • Bile Acid Defects Panel  (5 genes) 
  • Alpha-1 Antitrypsin Deficiency: SERPINA1 Genotype Analysis  (PI*Z and PI*S Alleles)
  • Alpha-1 Antitrypsin Deficiency: SERPINA1 Full Gene Sequencing
  • ABCB4 (PFIC3) Gene Sequencing
  • ABCB11 (PFIC2) Gene Sequencing
  • ATP7B Gene Sequencing
  • ATP8B1 (PFIC1) Gene Sequencing
  • BAAT Gene Sequencing
  • JAG1 GeneSequencing
  • TKP2 Gene Sequencing
  • UGT1A1 Gene Sequencing
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  • Neurovascular Diseases and Stroke Gene Panel (80 genes)
  • Chromosome Analysis, Bone Marrow / Oncology Blood
  • Chromosome Analysis, Tumor
  • Chromosome analysis, Lymph Node
  • FISH Analysis, Oncology
  • BCR/ABL t(9;22) Fusion
  • PML-RARA t(15;17) Fusion
  • Microarray Analysis
  • Langerhans cell histiocytosis (LCH): BRAF V600E Genotype Analysis and MAP2K1 Gene Sequencing
  • JAK2 V617F Quantitative Analysis
  • Pancreas Panel  (10 genes)
  • Pancreatic Insufficiency Panel  (4 genes)
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  • Comprehensive Pharmacogenetics Panel (CYP2C19, CYP2C9, CYP2D6, CYP3A5, NUDT15, TPMT)
  • Psychiatry Pharmacogenetics Expanded Panel (CYP2C19/CYP2D6)
  • Opioid CYP2D6 Pharmacogenetics Panel
  • CYP2D6/CYP2C19 Genotype Analysis for Bone Marrow Transplant Patients
  • CYP3A5 Genotype Analysis for Bone Marrow or Solid Organ Transplant Patients
  • Thiopurine Pharmacogenetics Analysis (TPMT/NUDT15)
  • Warfarin Pharmacogenetics (CYP2C9/VKORC1)
  • Cytochrome P450 Genotyping Only
    • CYP2C19 Genotyping Only
    • CYP2C9 Genotyping Only
    • CYP2D6 Genotyping Only
    • CYP2D6/CYP2C19 Genotyping Only
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  • Prenatal Reflex Algorithm
  • Chromosome Analysis
  • Aneuploidy FISH Panel (chromosomes 13, 18, 21, X and Y)
  • Microarray Analysis
  • Whole Exome Sequencing
  • Cleft and Craniofacial Panel (288 genes)
  • Congenital Heart Disease Panel (187 genes)
  • Heterotaxy Panel (114 genes)
  • RASopathy/Noonan Spectrum Disorders Panel (31 genes)
  • Single gene sequencing (Please see Prenatal Test Requisition for the list)
  • Known Familial Variant Targeted Analysis
  • Optical Genome Mapping
  • Special Studies (Cell Culture, Cryopreservation of Cultured Cells, Send Out Testing, etc.)
  • Maternal Cell Contamination Study
  • Chromosome Analysis
  • Microarray Analysis
  • Whole Exome Sequencing
  • Optical Genome Mapping
  • Special Studies (Cell Culture, Cryopreservation of Cultured Cells, Send Out Testing, etc.)
  • Maternal Cell Contamination Study
  • Whole Exome Sequencing
  • Whole Exome Sequencing Reanalysis
  • Epsignature Analysis by Methylation Array
  • Optical Genome Mapping
  • Custom Single-Gene Sequencing
  • Custom Deletion and Duplication Analysis by aCGH
  • Known Familial Variant Analysis: Targeted Sanger Sequencing or Targeted Del/Dup Analysis
  • Angelman Syndrome and Prader-Willi Syndrome Methylation Analysis
  • Cleft and Craniofacial Gene Panel
  • Epidermolysis Bullosa Gene Panel (EBSeq)
  • Fanconi Anemia Chromosome Breakage Analysis
  • Fanconi Anemia Gene Panel
  • Fragile X Syndrome PCR and Methylation
  • MECP2 Gene Sequencing
  • Neurodevelopmental Disorders Reflex Testing (Microarray, Fragile X, MECP2, PTEN)
  • Mitochondrial Disorders
    • POLG1 Gene Sequencing
    • VCP Gene Sequencing
  • PTEN Gene Sequencing
  • Rubinstein-Taybi Syndrome Panel
  • Spinal Muscular Atrophy: SMN1 and SMN2 Copy Number Analysis
  • Stickler Syndrome Gene Panel
  • Treacher-Collins Syndrome and Mandibulofacial Dysostosis Gene Panel
  • X-linked Adrenoleukodystrophy: ABCD1 Gene Sequencin
  • X-linked Adrenoleukodystrophy: ABCD1 Deletion/Duplication Analysis
  • Circadian and Complex Sleep Disorders Panel

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