Genetic and Genomic Diagnostic Lab
Tests and Services

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.

Cardiovascular Diseases

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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Chimerism, Bone Marrow Engraftment Monitoring, and Zygosity

Bone Marrow Engraftment: opposite sex by FISH or same/opposite sex by STR (Pre, Donor, Post)
Bone Marrow Engraftment, Sorted Cells: opposite sex by FISH or same/opposite sex by STR
Maternal Engraftment
Maternal Cell Contamination
Twin Zygosity

Chromosomal Disorders (Constitutional)

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

Hearing Loss

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

Hematologic Disorders
- ADAMTS13 gene sequencing
- aHUS Genetic Susceptibility Panel
- Bone Marrow Failure Syndromes
  - Diamond Blackfan Anemia
  - Dyskeratosis Congenita
  - Fanconi Anemia
  - Inherited Neutropenia
- Erythrocytosis Gene Sequencing Panel
- Hemolytic Anemia
  - Congenital Dyserythropoietic Anemia (CDA)
  - RBC Membrane Disorders
  - RBC Enzymopathy Panel
- Hereditary Hemochromatosis
- Platelet Disorders Gene Sequencing Panel
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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Immune System Disorders

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 / Lysosomal Storage Diseases

Inborn Errors of Metabolism Testing
- Elevated C16 Gene Sequencing Panel (CPT2 and SLC25A20)
- Glycogen Storage Disease Gene Sequencing Panel
- GSD type I Gene Sequencing Panel (G6PC and SLC37A4)
- LCHAD/TFP Gene Sequencing Panel (HADHA and HADHB)
- Metaboseq Gene Sequencing Panel
- Riboflavin Disorders Gene Sequencing Panel
- Single Gene Sequencing
  - ACADM (MCAD deficiency)
  - ACADVL (VLCAD deficiency)
  - ALDOB (Hereditary Fructose Intolerance)
  - GAA (Pompe disease)
  - CPT2 (CPT II deficiency)
  - SLC22A5 (Primary carnitine deficiency)
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 Diseases

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 and Stroke Diseases

Neurovascular Diseases and Stroke Gene Panel (80 genes)

Oncology (Acquired)

Chromosome Analysis, Bone Marrow / Oncology Blood
Chromosome Analysis, Tumor
Chromosome analysis, Lymph Node
FISH Analysis, Oncology
BCR/ABL t(9;22) Fusion, FISH and Quantitative/Qualitative PCR
PML-RARA t(15;17) Fusion, FISH and Quantitative PCR
Microarray Analysis
Langerhans cell histiocytosis (LCH): MAP2K1 Gene Sequencing
JAK2 V617F Quantitative Analysis

Pancreatic Diseases

Pancreas Panel (10 genes)
Pancreatic Insufficiency Panel (4 genes)

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Pharmacogenomic Testing

Comprehensive Pharmacogenetics Panel (CYP2C19, CYP2C9, CYP2D6, CYP3A5, NUDT15, TPMT)
Psychiatry Pharmacogenetics Expanded Panel (CYP2C19/CYP2D6)
Opioid CYP2D6 Pharmacogenetics Panel
CYP2C19 analysis – Proton Pump Inhibitor
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