Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog

Test Catalog

Test Name  Consent Form  Requisition  Additional Information  Section 
Acid β-Glucosidase (Gaucher Disease) Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Acute Intermittent Porphyria (AIP) Porphyria Genetic Testing Consent (pdf) Porphyria Testing Requisition (pdf) Molecular Genetics Laboratory
Acute Intermittent Porphyria (AIP) Porphyria Genetic Testing Consent (pdf) Porphyria Testing Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Acute Porphyrias Panel (AIP, HCP & VP) Porphyria Genetic Testing Consent (pdf) Porphyria Testing Requisition (pdf) Molecular Genetics Laboratory
Acylcarnitine Profile Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Amino Acid Full Panel Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Amino Acids Selective (For PKU/MSUD), Plasma Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Aneuploidy FISH Panel Aneuvysion Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Array Comparative Genomic Hybridization (aCGH) Postnatal, 2x105K ISCA design Postnatal Array Consent (pdf) General Test Requisition (pdf) Postnatal Array Physician Infosheet (pdf) Cytogenetics and Cytogenomics Laboratory
Array Comparative Genomic Hybridization (aCGH) Prenatal, 4x44K custom design Prenatal Array Consent (pdf) General Test Requisition (pdf) Credit Card Authorization Form (pdf) Cytogenetics and Cytogenomics Laboratory
Ashkenazi Jewish Carrier Test Panel Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Autism Spectrum Disorder Sequencing Panel ASD Consent (pdf) General Test Requisition (pdf) ASD Infosheet (pdf) Molecular Genetics Laboratory
Bloom Syndrome Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Canavan Disease Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Carnitine Concentration Profile Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Chitotriosidase (Gaucher Disease Biomarker) Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Chitotriosidase DNA DNA Testing Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
Chromosome Analysis Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Congenital Erythropoietic Porphyria (CEP) Porphyria Genetic Testing Consent (pdf) Porphyria Testing Requisition (pdf) Molecular Genetics Laboratory
Craniosynostosis Testing Panel Craniosynostosis Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
Cystic Fibrosis Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) General Carrier Screening Brochure (pdf) Molecular Genetics Laboratory
Erythropoietic Protoporphyria (EPP) Porphyria Genetic Testing Consent (pdf) Porphyria Testing Requisition (pdf) Molecular Genetics Laboratory
Expanded Carrier Screening Panel Counsyl Consent (pdf) General Test Requisition (pdf) Expanded Screening List of Disorders (pdf) Molecular Genetics Laboratory
FISH, 1p36 Deletion Syndrome Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, Angelman Syndrome Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, Cri-du-chat Syndrome Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, DiGeorge/Velo-cardio-facial syndrome Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, Kallmann Syndrome Analysis Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, Miller-Dieker Syndrome Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, POC FISH panel Abortus Tissue Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, Prader-Willi Syndrome Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, Prenatal Microdeletion Panel Microdeletion Panel Consent (pdf) General Test Requisition (pdf) Microdeletion Panel Infosheet (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, SRY Analysis Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, STAT FISH panel + Chromosome Analysis Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, STS Analysis Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, Smith-Magenis syndrome Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, Williams Syndrome Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, Wolf-Hirschhorn Syndrome Peripheral Blood Chromosomes and FISH Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Fabry Disease Fabry Consent Form (pdf) Fabry Testing Requisition and Information (pdf) Molecular Genetics Laboratory
Familial Dysautonomia Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Familial Hyperinsulinism Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Fanconi Anemia Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Fragile X Syndrome Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) General Carrier Screening Brochure (pdf) Molecular Genetics Laboratory
Gaucher Disease Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Glycogen Storage Disease Type Ia Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Hereditary Coproporphyria (HCP) Porphyria Genetic Testing Consent (pdf) Porphyria Testing Requisition (pdf) Molecular Genetics Laboratory
Hexosaminidase A (Tay-Sachs Disease) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Biochemical Genetics Laboratory
Hexosaminidase B (Sandhoff Disease) Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Joubert Syndrome Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Lipoamide Dehydrogenase Deficiency (E3) Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Maple Syrup Urine Disease Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Maternal Cell Contamination DNA Testing Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
Methylmalonic Acid Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Mucolipidosis Type IV Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Nemaline Myopathy Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Niemann-Pick Disease Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Noonan Syndrome Noonan Testing Consent (pdf) General Test Requisition (pdf) Noonan Syndrome Infosheet (pdf) Molecular Genetics Laboratory
Organic Acids, Urine Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Orotic Acid, Urine Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
P450-CYP2C19 Pharmacogenic Testing Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
P450-CYP2C9 Pharmacogenic Testing Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
P450-CYP2C9+VKORC1 Polymorphism Analysis (Warfarin Genotyping) Warfarin Requisition and Consent (pdf) Warfarin Requisition and Consent (pdf) Molecular Genetics Laboratory
P450-CYP2D6 (Tamoxifen Genotyping) General Test Requisition (pdf) Molecular Genetics Laboratory
Phenylalanine and Tyrosine, Dried Blood Spots Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Plasma and Urine Aminolevulinic Acid (ALA) Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Plasma and Urine Aminolevulinic Acid (ALA) and Porphobilinogen (PBG) Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Plasma and Urine Porphobilinogen (PBG) Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Porphyria Cutanea Tarda (PCT) Porphyria Genetic Testing Consent (pdf) Porphyria Testing Requisition (pdf) Molecular Genetics Laboratory
Prenatal Test DNA Testing Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
Roberts Syndrome DNA Testing Consent (pdf) General Test Requisition (pdf) Roberts Syndrome Infosheet (pdf) Molecular Genetics Laboratory
Spinal Muscular Atrophy Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) General Carrier Screening Brochure (pdf) Molecular Genetics Laboratory
Succinylacetone, Urine Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Tamoxifen Metabolites Tamoxifen Test Requisition (pdf) Tamoxifen Test Requisition (pdf) Biochemical Genetics Laboratory
Targeted Mutation Analysis DNA Testing Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
Tay-Sachs Disease Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Usher 1F Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Usher III Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
Variegate Porphyria (VP) Porphyria Genetic Testing Consent (pdf) Porphyria Testing Requisition (pdf) Molecular Genetics Laboratory
Walker-Warburg Syndrome Carrier Screening Requisition and Consent (pdf) Carrier Screening Requisition and Consent (pdf) Jewish Genetic Screening Brochure (pdf) Molecular Genetics Laboratory
X-Linked Protoporphyria (XLP) Porphyria Genetic Testing Consent (pdf) Porphyria Testing Requisition (pdf) Molecular Genetics Laboratory
Y Chromosome Deletion DNA Testing Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
α-Galactosidase A (Fabry Disease) Fabry Consent Form (pdf) Fabry Testing Requisition and Information (pdf) Biochemical Genetics Laboratory