Test Name & Code: • Test Name: Chromosome Analysis in Amniotic Fluid with Rapid FISH Result • Test Code: 5472 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis in Amniotic Liquid • “Karyotyping Analysis (amniotic fluid, liquid)” • “Conventional Cytogenetics (amniotic fluid, liquid)” • “Cytogenetic Evaluation (amniotic fluid, liquid)” Test Details: • Methodology:...
Test Name & Code: • Test Name: Chromosome Analysis in Amniotic Fluid with Rapid QF-PCR Result • Test Code: 5470 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis in Amniotic Liquid • “Karyotyping Analysis (amniotic fluid, liquid)” • “Conventional Cytogenetics (amniotic fluid, liquid)” • “Cytogenetic Evaluation (amniotic fluid, liquid)” Test Details: • Methodology:...
Test Name & Code: • Test Name: AR Deletion/Duplication Analysis • Test Code: 4822 Related Diseases & Genes: • Androgen insensitivity (OMIM #: 300068) || Gene: AR (OMIM #: 313700) • “Androgen insensitivity, partial, with or without breast cancer” (OMIM #: 312300) • “Hypospadias 1, X-linked” (OMIM #: 300633) • Spinal and bulbar muscular atrophy...
Test Name & Code: • Test Name: Whole Exome Sequencing (WES) • Test Code: 4778 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 9 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 5...
Test Name & Code: • Test Name: Oxidative Stress Levels in Semen (ROS Test) • Test Code: 4699 Related Diseases & Genes: • Male infertility Synonyms: -none- Test Details: • Methodology: Flow cytometry • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Semen fluid • Container: “Fresh semen sample; OR, at least...
Test Name & Code: • Test Name: Sperm Apoptosis Detection (ANNEXIN V) • Test Code: 4698 Related Diseases & Genes: • Male infertility Synonyms: -none- Test Details: • Methodology: Flow cytometry • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Semen fluid • Container: “Fresh semen sample; OR, at least 2 prepared...
Test Name & Code: • Test Name: XIST Gene Deletion • Test Code: 4666 Related Diseases & Genes: • “X-inactivation, familial skewed” (OMIM #: 300087) || Gene: XIST (OMIM #: 314670) Synonyms: • “X INACTIVATION CENTER, INCLUDED; XIC, INCLUDED” Test Details: • Methodology: FISH • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen...
Test Name & Code: • Test Name: Molecular Karyotyping • Test Code: 3698 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Array CGH • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 5 ml • Storage/Transport Condition:...
Test Name & Code: • Test Name: AR (Androgen Receptor ) Analysis • Test Code: 3569 Related Diseases & Genes: • Androgen insensitivity (OMIM #: 300068) || Gene: AR (OMIM #: 313700) • “Androgen insensitivity, partial, with or without breast cancer” (OMIM #: 312300) • “Hypospadias 1, X-linked” (OMIM #: 300633) • Spinal and bulbar...
Test Name & Code: • Test Name: Chromosome Analysis in Chorionic villus sampling (CVS) • Test Code: 3205 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis in Chorionic Villus Material • Karyotype Analysis in Chorionic Villus Material • Conventional Cytogenetics (chorionic villus material) • Cytogenetic Evaluation (chorionic villus material) Test Details: • Methodology:...
Test Name & Code: • Test Name: Chromosome Analysis in Fetal Blood • Test Code: 3203 Related Diseases & Genes: -not applicable- Synonyms: • Karyotype Analysis (fetal blood) • Conventional Cytogenetics (fetal blood) • Cytogenetic Evaluation (fetal blood) • Chromosome Analysis in Cordocentesis Test Details: • Methodology: Cytogenetics; 72 hours induced tissue culture • Performed:...
Test Name & Code: • Test Name: Chromosome Analysis in Peripheral Blood • Test Code: 3202 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis from Peripheral Blood • Karyotyping Analysis (peripheral blood) • Conventional Cytogenetics (peripheral blood) • Cytogenetic Evaluation (peripheral blood) Test Details: • Methodology: Cytogenetics; 72 hours induced tissue culture •...
Test Name & Code: • Test Name: Chromosome Analysis in Amniotic Fluid • Test Code: 3201 Related Diseases & Genes: -not applicable- Synonyms: • Chromosome Analysis in Amniotic Liquid • “Karyotyping Analysis (amniotic fluid, liquid)” • “Conventional Cytogenetics (amniotic fluid, liquid)” • “Cytogenetic Evaluation (amniotic fluid, liquid)” Test Details: • Methodology: Cytogenetic; Tissue Culture •...
Test Name & Code: • Test Name: Rapid Detection of Trisomy (QF-PCR) • Test Code: 3200 Related Diseases & Genes: -not applicable- Synonyms: • QF-PCR (amniotic fluid/liquid) Test Details: • Methodology: QF-PCR • Performed: Everyday • Reported: 2 days Specimen Details: • Specimen Collection: Amniotic fluid/liquid • Container: Sterile Syringe • Specimen Volume/Amount: > 5...
Test Name & Code: • Test Name: Determination of Maternal Contamination • Test Code: 3120 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Fragment Analysis • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Amniotic fluid/liquid and Maternal/Paternal Blood • Specimen Volume/Amount: > 3 ml • Storage/Transport Condition:...
Test Name & Code: • Test Name: Sperm DNA Damage and Genetic Screening • Test Code: 2730 Related Diseases & Genes: • Male infertility Synonyms: • Sperm DNA Fragmentation Test • Sperm FISH Analysis Test Details: • Methodology: FISH; TUNNEL • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Semen fluid •...
Test Name & Code: • Test Name: Sperm DNA Damage • Test Code: 2729 Related Diseases & Genes: • Male infertility Synonyms: • Sperm DNA Fragmentation Test Test Details: • Methodology: TUNNEL • Performed: Everyday • Reported: 1-2 weeks Specimen Details: • Specimen Collection: Semen fluid • Container: “Fresh semen sample; OR, at least 2...
Test Name & Code: • Test Name: Cystic Fibrosis CFTR Delta F508 Mutation • Test Code: 2671 Related Diseases & Genes: • Congenital bilateral absence of vas deferens (CBAVD) (OMIM #: 277180) || Gene: CFTR (OMIM #: 602421) • Cystic fibrosis (OMIM #: 219700) • Sweat chloride elevation without CF Synonyms: • “ATP-BINDING CASSETTE, SUBFAMILY...
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: 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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