Featured Genetic Tests
The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital offers both constitutional and somatic testing (see list). Please click on the tabs below to learn more about the tests offered to external clients, sample(s) required, and how to order testing. For questions, please call (614) 722-5321.
If you cannot find the test you are looking for below, click here to view our full test directory.
Cytogenetic Testing
Prenatal Testing
- Prenatal Aneuploidy FISH Screen for Chromosomes 13, 18, 21, X, Y
- Amniotic Fluid Chromosome Analysis, Standard
- Amniotic Fluid 5-cell Chromosome Analysis
- Prenatal Microarray with Parental Testing
- Prenatal Microarray without Parental Testing
- Percutaneous Umbilical Blood, Chromosome Analysis
- Amniotic Fluid Culture Only
Products of Conception (POC) Testing
- POC Microarray Analysis
- POC Microarray with 5-cell Chromosome Analysis
- Tissue Chromosome Analysis
- Tissue Culture Only
Postnatal Testing
- Chromosome Analysis:
- Fibroblast Culture:
- FISH Analysis
- SNP Microarray Analysis
- Parental Testing – Available if child previously had a cytogenetic test performed by IGM:
Molecular Genetic Testing
- Bone Marrow Transplant (BMT) Engraftment Analysis:
- Cystic Fibrosis Common Mutation Analysis (60 Variants)
- Familial Variant Targeted Sequencing: Targeted Variant Testing available for known variant(s)
- Fragile X Syndrome - Repeat Number Analysis with Reflex to Methylation
- Genome Sequencing Data Reanalysis - Available if child previously had Genome Sequencing performed by IGM:
- Krabbe Disease:
- Mucopolysaccharidosis Type I (MPS I): IDUA Gene Sequencing
- Prader-Willi Syndrome/Angelman Syndrome Methylation Analysis
- Spinal Muscular Atrophy (SMA) Dosage Analysis
Oncology Genetic Testing
CNS Malignancies
- Somatic Disease/Germline Comparator Exome
- Solid Tumor Fusion Analysis (151 Fusion Partner Genes)
- CNS Tumor Classification by Methylation Array
- Medulloblastoma: MYCN (N-MYC) and MYC (C-MYC) Amplification Detection by FISH
Soft Tissue Sarcoma
- Somatic Disease/Germline Comparator Exome
- EWSR1 FISH Tumor Analysis
- Alveolar Rhabdomyosarcoma: FOXO1 (FKHR) Rearrangement Detection by FISH
- Soft Tissue Sarcoma Tumor Analysis by RT-PCR: Full panel includes all fusions listed below -or- specific RT-PCR can be performed for selected sarcoma types:
- Ewing Sarcoma (EWS-FLI-1 and EWS-ERG Fusions)
- Alveolar Rhabdomyosarcoma (PAX3-FOXO1 and PAX7-FOXO1 Fusions)
- Synovial Sarcoma (SYT-SSX1 and SYT-SSX2 Fusions)
- Desmoplastic Small Round Cell Tumor (EWS-WT1 Fusion)
- Congenital Fibrosarcoma/Cellular Mesoblastic Nephroma (ETV6-NTRK3 Fusion)
Neuroblastoma
- Somatic Disease/Germline Comparator Exome
- Targeted Oncology Microarray (DNA Gain/Loss and LOH Detection)
- NGS Neuroblastoma Panel
- MYCN (N-MYC) Amplification Detection by FISH
- ALK Amplification Detection by FISH
Wilms Tumor
- Somatic Disease/Germline Comparator Exome
- Targeted Oncology Microarray (DNA Gain/Loss and LOH Detection)
Other Solid Tumors and Vascular Anomalies
Hematologic Cancers
- Somatic Disease/Germline Comparator Exome
- Hematologic Cancer Fusion Analysis (Fusion Detection for 148 Gene Partners)