Test Name & Code: • Test Name: Plavix Effectiveness (CYP2C19) • Test Code: 2323 Related Diseases & Genes: Gene: CYP2C19 (OMIM #: 124020) Synonyms: • CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19 Test Details: • Methodology: RT-PCR (melting point) • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...
Test Name & Code: • Test Name: Fragile X Repeat Analysis • Test Code: 2318 Related Diseases & Genes: • Fragile X syndrome (OMIM #: 300624) || Gene: FMR1 (OMIM #: 309550) • Fragile X tremor/ataxia syndrome (OMIM #: 300623) • Premature ovarian failure 1 (OMIM #: 311360) Synonyms: • FRAGILE X MENTAL RETARDATION PROTEIN;...
Test Name & Code: • Test Name: FLT3 Mutations • Test Code: 2313 Related Diseases & Genes: • Leukemia, acute myeloid (OMIM #: 601626) || Gene: FLT3 (OMIM #: 136351) • Leukemia, acute lymphoblastic (OMIM #: 613065) • Leukemia, acute myeloid, reduced survival in (OMIM #: ) Synonyms: • FMS-RELATED TYROSINE KINASE 3 • STEM...
Test Name & Code: • Test Name: Fluorouracil Toxicity • Test Code: 2307 Related Diseases & Genes: • 5-fluorouracil toxicity (OMIM #: 274270) || Gene: DPYD (OMIM #: 612779) • Dihydropyrimidine dehydrogenase deficiency (OMIM #: 274270) Synonyms: • DPD DEFICIENCY • DPYD DEFICIENCY • DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY • 5-Fluorouracil Activity • DPD*2A Test Details: • Methodology:...
Test Name & Code: • Test Name: Chromosome Analysis in Abortion/Miscarriage Material • Test Code: 2273 Related Diseases & Genes: -not applicable- Synonyms: • Karyotype Analysis (Abortion/Miscarriage Material) • Conventional Cytogenetics (Abortion/Miscarriage Material) • Cytogenetic Evaluation (Abortion/Miscarriage Material) Test Details: • Methodology: Cytogenetics; Tissue Culture • Performed: Everyday • Reported: 3-4 weeks Specimen Details: •...
Test Name & Code: • Test Name: Chromosome Analysis from Solid Tissue Material • Test Code: 2255 Related Diseases & Genes: -not applicable- Synonyms: • Karyotype Analysis (solid tissue material) • Conventional Cytogenetic (solid tissue material) • Cytogenetic Analysis (solid tissue material) • Chromosome Analysis in Solid Tissue Biopsy Test Details: • Methodology: Cytogenetics; Tissue...
Test Name & Code: • Test Name: Microsatellite Instability • Test Code: 2242 Related Diseases & Genes: • Colorectal cancer, hereditary nonpolyposis, type 1 (OMIM #: 120435) • Lynch Syndrome I (OMIM #: 120435) Synonyms: • MSI Test Details: • Methodology: PCR • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection: Tumour...
Test Name & Code: • Test Name: Propionicacidemia Genetic Test (PCCA, PCCB Genes) • Test Code: 2236 Related Diseases & Genes: • Propionicacidemia (OMIM #: 606054) || Gene: PCCA (OMIM #: 232000) || Gene: PCCB (OMIM #: 232050) Synonyms: • “Propionyl-CoA Carboxylase, Alpha Subunit” • “Propionyl-CoA Carboxylase, Beta Subunit” Test Details: • Methodology: DNA Sequencing...
Test Name & Code: • Test Name: Hereditary Fructose Intolerance (ALDOB Gene) • Test Code: 2227 Related Diseases & Genes: • Fructose intolerance (OMIM #: 229600) || Gene: ALDOB (OMIM #: 612724) Synonyms: • Aldolase B Mutations • ALDOB Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen Details:...
Test Name & Code: • Test Name: CYP2D6 Mutation Analysis • Test Code: 2219 Related Diseases & Genes: • Debrisoquine sensitivity (OMIM #: 608902) || Gene: CYP2D6 (OMIM #: 124030) • Codeine sensitivity (OMIM #: 608902) Synonyms: • “CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6” • “DRUG METABOLISM, POOR, CYP2D6-RELATED” Test Details: • Methodology: RT-PCR (melting...
Test Name & Code: • Test Name: Hemochromatosis (2 Mutations) • Test Code: 2196 Related Diseases & Genes: • Hemochromatosis (OMIM #: 235200) || Gene: HFE (OMIM #: 613609) Synonyms: • HFE Mutation Analysis Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood •...
Test Name & Code: • Test Name: E-Cadherin Mutations • Test Code: 2193 Related Diseases & Genes: • Gastric cancer, familial diffuse, with or without cleft lip and/or palate (OMIM #: 137215) || Gene: CDH1 (OMIM #: 192090) • Endometrial carcinoma, somatic (OMIM #: 608089) Synonyms: • CDH1 Whole Gene Sequence Analysis Test Details: •...
Test Name & Code: • Test Name: HLA-B51 • Test Code: 2191 Related Diseases & Genes: • Behcet Syndrome (OMIM #: 109650) || Gene: HLA-B (OMIM #: 142830) Synonyms: • Behcet Disease, Susceptibility to Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Peripheral blood • Container:...
Test Name & Code: • Test Name: Familial Adenomatous Polyposis • Test Code: 2179 Related Diseases & Genes: • Adenomatous polyposis coli (OMIM #: 175100) || Gene: APC (OMIM #: 611731) Synonyms: • Gardner Syndrome • FAP • AFAP • APC Mutations Test Details: • Methodology: PCR; DNA Sequencing • Performed: Everyday • Reported: 3...
Test Name & Code: • Test Name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY • Test Code: 2174 Related Diseases & Genes: • Immunodeficiency due to purine nucleoside phosphorylase deficiency (OMIM #: 613179) || Gene: PNP (OMIM #: 164050) Synonyms: • PNP Sequence Analysis • NUCLEOSIDE PHOSPHORYLASE; NP • PURINE-NUCLEOSIDE:ORTHOPHOSPHATE RIBOSYLTRANSFERASE Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported:...
Test Name & Code: • Test Name: Antithrombin III • Test Code: 2169 Related Diseases & Genes: • Thrombophilia due to antithrombin III deficiency (OMIM #: 613118) || Gene: AT3D (OMIM #: 613118) Synonyms: • ANTITHROMBIN III DEFICIENCY • AT Gene • “Exon 1, 2, 3a, 3b, 4, 5, 6” Test Details: • Methodology: DNA Sequencing •...
Test Name & Code: • Test Name: FOXL2 Mutation • Test Code: 2167 Related Diseases & Genes: • Blepharophimosis, epicanthus inversus, and ptosis, type 1 (OMIM #: 110100) || Gene: FOXL2 (OMIM #: 605597) • Blepharophimosis, epicanthus inversus, and ptosis, type 2 (OMIM #: 110100) • Premature ovarian failure 3 (OMIM #: 608996) Synonyms: •...
Test Name & Code: • Test Name: HNPP • Test Code: 2164 Related Diseases & Genes: • “NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP” (OMIM #: 162500) || Gene: PMP22 (OMIM #: 601097) Synonyms: • PMP22 Deletion • 17p11.2 Deletion Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 1 week Specimen Details:...
Test Name & Code: • Test Name: FGF23 Mutations • Test Code: 2142 Related Diseases & Genes: • Hypophosphatemic rickets, autosomal dominant (OMIM #: 193100) || Gene: FGF23 (OMIM #: 605380) • Tumoral calcinosis, hyperphosphatemic, familial (OMIM #: 211900) Synonyms: • Fibroblast Growth Factor 23 Test Details: • Methodology: DNA Sequencing • Performed: Everyday •...
Test Name & Code: • Test Name: Whole Chromosome Painting (FISH) (46 chromosomes) • Test Code: 2137 Related Diseases & Genes: -not applicable- Synonyms: • Multiprobe FISH whole chromosome • Specific FISH for 46 Chromosomes Test Details: • Methodology: FISH • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Peripheral blood •...
Test Name & Code: • Test Name: NORRIE Disease • Test Code: 2118 Related Diseases & Genes: • Norrie disease (OMIM #: 310600) || Gene: NDP (OMIM #: 300658) Synonyms: • NDP Gene Mutations • Norin Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral...
Test Name & Code: • Test Name: Translocation (12;21)(p12;q22) (PCR) • Test Code: 1995 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: ETV6 (OMIM #: 600618) || Gene: RUNX1 (OMIM #: 151385) Synonyms: • t(12;21)(p12;q22) • TEL/AML1 fusion Test Details: • Methodology: RT-PCR • Performed: Thursdays • Reported: 1...
Test Name & Code: • Test Name: MDR1 Mutation • Test Code: 1992 Related Diseases & Genes: • Multidrug resistance || Gene: ABCB1 (OMIM #: 171050) Synonyms: • MULTIDRUG RESISTANCE GENE (MDR1) • Multi Drug Resistance Test Details: • Methodology: PCR • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood...
Test Name & Code: • Test Name: Chimerism (Transplantation from a different sex) • Test Code: 1944 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with Heparin • Specimen Volume/Amount: > 3 ml...
Test Name & Code: • Test Name: Chimerism (Transplantation from the same sex) • Test Code: 1940 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: DNA Fragment Analysis • Performed: Thursdays • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Oral Lavage • Container: Tube with EDTA • Specimen...
Test Name & Code: • Test Name: CIAS1 Gene Mutations • Test Code: 1849 Related Diseases & Genes: • CINCA syndrome (OMIM #: 607115) || Gene: NLRP3 (OMIM #: 606416) • “Cold-induced autoinflammatory syndrome, familial” (OMIM #: 120100) • Muckle-Wells syndrome (OMIM #: 191900) Synonyms: • CIAS1 Gene (CIAS1) • “Nacht Domain-, Leucine-Rich Repeat-, and...
Test Name & Code: • Test Name: ApoE Genotyping • Test Code: 1438 Related Diseases & Genes: • Alzheimer disease-2 (OMIM #: 104310) || Gene: APOE (OMIM #: 107741) • “Hyperlipoproteinemia, type III” • Lipoprotein glomerulopathy (OMIM #: 611771) • Sea-blue histiocyte disease (OMIM #: 269600) Synonyms: -none- Test Details: • Methodology: Reverse Dot Blot...
Test Name & Code: • Test Name: Y Chromosome Microdeletion Analysis • Test Code: 0790 Related Diseases & Genes: • Male infertility Synonyms: • Microdeletion Analysis • Y Microdeletion Test Details: • Methodology: Multiplex PCR • Performed: Tuesday • Reported: 3 days Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA •...
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