Tests Offered

Cytogenetics Laboratory

• Amniotic Fluid Chromosome Analysis
• Blood Chromosome Analysis
• Bone Marrow Chromosome Analysis
• Cell-Line Build Up
• Chorionic Villi Chromosome Analysis
• Fluorescence In Situ Hybridization (Including Aneuvysion and UroVysion)
• Leukemic Blood Chromosome Analysis
• Products of Conception Chromosome Analysis
• Solid Tumor Chromosome Analysis

Molecular Diagnostics Laboratory

• Ashkenazi Jewish Disease Carrier Screening Panel
• CFTR Known Familial Mutation Analysis
• CFTR Gene Sequence Analysis
• CFTR Gene Prenatal Diagnosis
• Connexin 26 Sequence Analysis
• Connexin 30 Deletion
• Connexin 30 (GJB6) Gene Sequence Analysis
• Cystic Fibrosis Carrier Screening Panel
• DNA Extraction and Storage
• Dihydrolipoamide S-Acetyltransferase (DLAT) Prenatal Analysis
• Dihydrolipoamide S-Acetyltransferase (DLAT) Known Familial Mutation Analysis
• Dihydrolipoamide S-Acetyltransferase (DLAT) Gene Sequence Analysis
• Dihydrolipoamide Dehydrogenase (DLD) Prenatal Analysis
• Dihydrolipoamide Dehydrogenase (DLD) Known Familial Mutation Analysis
• Dihydrolipoamide Dehydrogenase (DLD) Gene Sequence Analysis
• Factor V Leiden Analysis
• Factor V HR2 Analysis
• Fragile X Syndrome
• FH Known Familial Mutation Analysis
• FH Gene Sequence Analysis
• FH Gene Prenatal Diagnosis
• Hearing Loss Panel
• Lynch Syndrome Panel
• Hereditary Hemochromatosis
• MLH1 Gene Deletion/Duplication Analysis
• MLH1 Known Familial Mutation Analysis
• MLH1 Gene Sequence Analysis
• MSH2 Gene Deletion/Duplication Analysis
• MSH2 Known Familial Mutation Analysis
• MSH2 Gene Sequence Analysis
• MSH6 Gene Deletion/Duplication Analysis
• MSH6 Known Familial Mutation Analysis
• MSH6 Gene Sequence Analysis
• MTHFR Analysis
• Mitochondrial MTRNR1 and MTTS1 Sequencing Analysis
• MYBPC3 Gene Mutation Analysis
• PC Gene Known Familial Mutation Analysis
• PC Gene Sequence Analysis
• PC Gene Prenatal Diagnosis
• PDHA1 Gene Known Familial Mutation Analysis
• PDHA1 Gene Sequence Analysis
• PDHA1 Gene Prenatal Diagnosis
• PDHB Gene Known Familial Mutation Analysis
• PDHB Gene Sequence Analysis
• PDHB Gene Prenatal Diagnosis
• PDHX Gene Known Familial Mutation Analysis
• PDHX Gene Sequence Analysis
• PDHX Gene Prenatal Diagnosis
• PMS2 Gene Deletion/Duplication Analysis
• PMS2 Known Familial Mutation Analysis
• PMS2 Gene Sequence Analysis
• Post-Transplant Chimerism Analysis
• Prader-Willi/Angelman Syndrome Methylation Studies
• Pre-Transplant Chimerism Analysis
• Prion Sequence Analysis
• Prothrombin Analysis
• Quantitative Analysis for BCR-ABL Fusion Transcripts
• Thrombosis Panel
• Uniparental Disomy Studies
• Y Deletion Testing
• Zygosity Testing

Prenatal Screening Laboratory

• Ashkenazi Jewish Disease Carrier Screening Panel
• Cystic Fibrosis Carrier Screening Panel
• First Trimester Screening
• Second Trimester AFP Only
• Second Trimester Triple Check
• Second Trimester Quadruple Check