Department of Pathology

  

Division of Molecular Genomic Pathology - All Tests

Each of the links below leads to an information form about the test including the method, turnaround time, CPT codes and pricing. For test requisition forms, please click here.

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A - B Adenovirus, qualitative realtime PCR Bacterial strain identification (rRNA gene sequence analysis) BCL2/Immunoglobulin heavy chain translocation, t(14;18) ?Major breakpoint cluster region (Mbr),PCR BCL2/Immunoglobulin heavy chain translocation, t(14;18) ?Major breakpoint cluster region (Mbr), Southern blot BCL2/Immunoglobulin heavy chain translocation, t(14;18) ?minor cluster region (mcr), PCR BCL2/Immunoglobulinheavy chain translocation, t(14;18) ?minor cluster region (mcr), Southern blot BCL6 translocation, t(3;others), Southern blot BCR-ABL translocation (M-BCR: major breakpoint), t(9;22) (CML, some cases of ALL), quantitative real-time RT-PCR BCR-ABL translocation (m-BCR: minor breakpoint), t(9;22) (some cases of ALL), quantitative real-time RT-PCR BK (Polyoma) virus, Quantitative PCR BRCA 1 and 2 (Ashkenazi Jewish Screening Panel) for hereditary breast cancer Breast Cancer, hereditary (BRCA1/2 Ashkenazi Jewish Screening Panel) C - D CLL sequencing analysis for mutated/non-mutated status of immunoglobulin heavy chain gene variable regions CMV (Cytomegalovirus), PCR c-MYC translocations, t(8;14) and t(8;22) and t(2;8), Southern blot Consultation Cystic Fibrosis (ACMG 23 mutation panel) with polyT analysis Cytomegalovirus (CMV), qualitative realtime PCR DNA Isolation and Storage E - F EBV (Epstein-Barr Virus) Clonality Studies, Southern blot EBV (Epstein-Barr Virus), qualitative realtime PCR Epstein-Barr Virus (EBV) Clonality Studies, Southern blot Epstein-Barr Virus (EBV), qualitative realtime PCR Factor II (Prothrombin 20210G>A) (Invader) Factor V Leiden (Invader) Fragile X Syndrome G - H HBV (Hepatitis B Virus), PCR , quantitative in plasma, qualitative for liver HCV (Hepatitis C Virus), genotype (DNA sequence analysis) HCV (Hepatitis C Virus), genotype (Invader) HCV (Hepatitis C Virus), RT-PCR, quantitative in plasma, qualitative for liver Hemochromatosis Hepatitis B (HBV), PCR , quantitative in plasma, qualitative for liver Hepatitis C virus (HCV) genotype, DNA sequence analysis Hepatitis C virus (HCV), genotype (Invader) Hepatitis C Virus (HCV), RT-PCR, Quantitative Hereditary Pancreatic carcinoma (PALLD gene sequencing) Hereditary Pancreatitis (R122H, N29I, A16V) Hereditary Paraganglioma/pheochromocytoma (SDHD / SDHB / SDHC), full gene sequence analysis Herpes Simplex Virus (Types 1,2), qualitative realtime PCR HIV-1 (Human Immunodeficiency Virus, Type 1), Quantitative RT-PCR (Viral Load) , ultrasensitive HSV-1 (Herpes Simplex Virus, Type 1), qualitative realtime PCR HSV-2 (Herpes Simplex Virus, Type 2), qualitative realtime PCR HTLV-I (Human T-cell Leukemia Virus, Type I), qualitative realtime PCR HTLV-II (Human T-cell Leukemia Virus, Type II), qualitative realtime PCR Human Immunodeficiency Virus, Type 1 (HIV-1), Quantitative RT-PCR (Viral Load), ultrasensitive Human T-cell Leukemia Virus, Type 1 (HTLV-1), qualitative realtime PCR Human T-cell Leukemia Virus, Type II (HTLV-II), qualitative realtime PCR Huntington Disease    Specific Test Information    Symptomatic Testing Information for Patients    Presymptomatic Testing Information for Patients I - L Immunoglobulin heavy chain gene rearrangement, PCR Immunoglobulin heavy chain gene rearrangement, Southern Blot Isovaleric Acidemia (Isovaleryl-CoA-Dehydrogenase gene sequencing) JAK2 V617F mutation testing (PCR), myeloproliferative disorders JC (Polyoma) virus, qualitative real-time PCR Kennedy Disease (Spinal & Bulbar Muscular Atrophy), X-linked Lymphedema distichiasis syndrome (FOXC2 gene sequencing) M - O Malignant hyperthermia (RYR1 gene sequenced analysis, partial) MCAD deficiency (medium chain Acyl-CoA-Dehydrogenase), exon 11 (>90% mutations) MELAS (Mitochondrial Encephalopathy, Lactic Acidosis and Stroke Syndrome) MEN2A/B (c-RET oncogene) for Multiple Endocrine Neoplasia, Type 2, exons 10,11,13,14,15,16) MERRF (Myoclonic Epilepsy with Ragged Red Fibers) Methylenetetrahydrofolate reductase (MTHFR), 677C>T Thermolabile polymorphism (Invader) Mitochondrial Mutation Panel (MELAS, MERRF, NARP) Molecular Diagnostics consultation MTHFR, 677C>T Thermolabile Polymorphism (Invader) Multiple Endocrine Neoplasia, Type 2 (MEN 2A/2B, c-RET oncogene) (exons 10,11,13,14,15,16) NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) P - R Pancreatic secretory trypsin inhibitor (SPINK1, a.k.a. Serine protease inhibitor, kazal type 1) , PCR PML;RAR-alpha translocation, t(15;17), RT-PCR, qualitative, nested PML;RAR-alpha translocation, t(15;17), RT-PCR, quantitative Polyoma (BK or JC) Virus, auantitative or qualitative real-time PCR Prothrombin 20210G>A (Factor II) RNA Isolation and Storage RYR1 gene sequence analysis, partial (Malignant hyperthermia) S SDHB (Hereditary Paraganglioma/pheochromocytoma), full gene sequencing SDHC (Hereditary Paraganglioma/pheochromocytoma), full gene sequencing SDHD (Hereditary Paraganglioma/pheochromocytoma), full gene sequencing Serine protease inhibitor, kazal type 1 (SPINK1), PCR SMA (Spinal Muscular Atrophy), autosomal recessive (types I, II, and III) , PCR (diagnostic, not carrier) Spinal & Bulbar Muscular Atrophy, X-linked (Kennedy Disease) Spinal Muscular Atrophy, autosomal recessive (types I, II, and III), PCR (diagnostic, not carrier) SPINK1 (Serine protease inhibitor, kazal type 1), PCR Storage, DNA and/or RNA T t(11q23;others), MLL translocation, Southern blot t(14;18) (BCL2;IGH) ?Major breakpoint cluster region (Mbr), PCR t(14;18) (BCL2;IGH) ?Major breakpoint cluster region (Mbr), Southern blot t(14;18) (BCL2;IGH) ?minor cluster region (mcr), PCR t(14;18) (BCL2;IGH) ?minor cluster region (mcr), Southern blot t(15;17), PML;RAR-alpha, RT-PCR, qualitative, nested t(15;17), PML;RAR-alpha, RT-PCR, quantitative t(3;others), BCL6;others, Southern blot t(8;others), c-MYC;Ig, Southern blot t(9;22), BCR-ABL translocation (M-BCR: major breakpoint) (CML, some cases of ALL), quantitative real-time RT-PCR t(9;22), BCR-ABL translocation (m-BCR: minor breakpoint) (some cases of ALL), quantitative real-time RT-PCR T-cell receptor beta chain gene rearrangement, Southern Blot T-cell receptor gamma chain gene rearrangement, PCR U - Z Varicella Zoster Virus (VZV), qualitative realtime PCR VZV (Varicella Zoster Virus), qualitative realtime PCR

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