Department of Pathology

  

Division of Molecular Genomic Pathology - Genetic 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 BRCA 1 and 2 (Ashkenazi Jewish Screening Panel) for hereditary breast cancer Breast Cancer, hereditary (BRCA1/2 Ashkenazi Jewish Screening Panel) C - D Consultation Cystic Fibrosis (ACMG 23 mutation panel) with polyT analysis DNA Isolation and Storage E - F Factor II (Prothrombin 20210G>A) (Invader) Factor V Leiden (Invader) Fragile X Syndrome G - H Hemochromatosis Hereditary Pancreatic carcinoma (PALLD gene sequencing) Hereditary Pancreatitis (R122H, N29I, A16V) Hereditary Paraganglioma/pheochromocytoma (SDHD / SDHB / SDHC), full gene sequence analysis Huntington Disease    Specific Test Information    Symptomatic Testing Information for Patients    Presymptomatic Testing Information for Patients I - L Isovaleric Acidemia (Isovaleryl-CoA-Dehydrogenase gene sequencing) 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 MERRF (Myoclonic Epilepsy with Ragged Red Fibers) Methylenetetrahydrofolate reductase (MTHFR), 677C>T Thermolabile polymorphism (Invader) Mitochondrial Mutation Panel (MELAS, MERRF, NARP) Molecular Diagnostic 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 Prothrombin 20210G>A (Factor II) (Invader) RYR1 gene sequence analysis, partial (Malignant hyperthermia) S SDHB (Hereditary paraganglioma/pheochromoctyoma), 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

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