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 
1p36 Deletion Syndrome FISH analysis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
3-Phosphoglycerate Dehydrogenase Deficiency Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Abetalipoproteinemia Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Acid β-Glucosidase (Gaucher Disease) Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Acute Intermittent Porphyria (AIP) Porphyria Informed Consent.01.2015.pdf (pdf) Porphyria Test Requisition (pdf) Molecular Genetics Laboratory
Acute Porphyrias Panel (AIP, HCP & VP) Porphyria Genetic Testing Consent (pdf) Porphyria Test Requisition (pdf) Molecular Genetics Laboratory
Acylcarnitine Profile Biochemical Genetics Laboratory
Alport Syndrome, Autosomal Recessive Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Amino Acid Full Panel Biochemical Genetics Laboratory
Amino Acids Selective (For PKU/MSUD), Plasma Biochemical Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Aneuploidy FISH Panel Prenatal Consent (pdf) Prenatal Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Angelman Syndrome FISH analysis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Arthrogryposis, Mental Retardation and Seizures Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Ashkenazi Jewish Carrier Test Panel (36 disease) Molecular Genetics Laboratory
Autism Spectrum Disorder Sequencing Panel ASD Consent (pdf) General Test Requisition (pdf) ASD Infosheet (pdf) Molecular Genetics Laboratory
Bardet-Biedl Syndrome Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Bloom Syndrome Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
Canavan Disease Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
Carnitine Concentration Profile Biochemical Genetics Laboratory
Carnitine Palmitoyltransferase II Deficiency Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular 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 Postnatal Consent (pdf) Prenatal Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Chromosome Microarray aCGH + SNP Testing POC Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Congenital Amegakaryocytic Thrombocytopenia Carrier Screening Requisition and Consent (pdf) Molecular Genetics Laboratory
Congenital Disorder of Glycosylation 1a Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Congenital Erythropoietic Porphyria (CEP) Porphyria Genetic Testing Consent (pdf) Porphyria Test Requisition (pdf) Molecular Genetics Laboratory
Craniosynostosis Testing Panel Craniosynostosis Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
Cri-du-chat Syndrome FISH analysis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Cystic Fibrosis Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
DiGeorge/Velo-cardio-facial syndrome FISH anaylsis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Dyskeratosis Congenita, Autosomal Recessive Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Ehlers-Danlos VIIC Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Erythropoietic Protoporphyria (EPP) Porphyria Genetic Testing Consent (pdf) Porphyria Test 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, Kallmann Syndrome Analysis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, POC FISH panel POC Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, SRY Analysis Postnatal Consent (pdf) Prenatal Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, STAT FISH panel + Chromosome Analysis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
FISH, STS Analysis Postnatal 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) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
Familial Hyperinsulinism Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Fanconi Anemia Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier 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
Galactosemia Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Gaucher Disease Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
Glycogen Storage Disease Type Ia Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening Panel (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) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
Lipoamide Dehydrogenase Deficiency (E3) Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
Lysosomal Acid Lipase Activity Postnatal Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Maple Syrup Urine Disease Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening Panel (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
Miller-Dieker Syndrome FISH analysis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Mucolipidosis Type IV Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
Multiple Sulphatase Deficiency Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Nemaline Myopathy Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Niemann-Pick Disease Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
Noonan Spectrum Disorders Sequencing Panel (14 genes) Carrier Screening Requisition and Consent (pdf) Noonan Spectrum Disorders Sequencing Panel (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) Postnatal Consent (pdf) General Test Requisition (pdf) Biochemical Genetics Laboratory
Polycystic Kidney Disease, Autosomal Recessive Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Porphyria Cutanea Tarda (PCT) Porphyria Genetic Testing Consent (pdf) Porphyria Test Requisition (pdf) Molecular Genetics Laboratory
Prader-Willi Syndrome FISH analysis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Prenatal Microdeletion FISH Panel Prenatal Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Prenatal Test DNA Testing Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
Retinitis Pigmentosa 59 Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Roberts Syndrome DNA Testing Consent (pdf) General Test Requisition (pdf) Roberts Syndrome Infosheet (pdf) Molecular Genetics Laboratory
Smith-Lemli-Opitz Syndrome Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Smith-Magenis syndrome FISH analysis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Spinal Muscular Atrophy Carrier Screening Requisition and Consent (pdf) Enhanced Carrier Testing for SMA (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) Expanded Ashkenazi Jewish Carrier Screening Panel (pdf) Molecular Genetics Laboratory
Tyrosinemia I Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Usher 1F Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Usher III Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Variegate Porphyria (VP) Porphyria Genetic Testing Consent (pdf) Porphyria Test Requisition (pdf) Molecular Genetics Laboratory
Walker-Warburg Syndrome Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Williams Syndrome FISH analysis Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
Wilson Disease Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
Wolf-Hirschhorn Syndrome FISH Postnatal Consent (pdf) General Test Requisition (pdf) Cytogenetics and Cytogenomics Laboratory
X-Linked Protoporphyria (XLP) Porphyria Genetic Testing Consent (pdf) Porphyria Test Requisition (pdf) Molecular Genetics Laboratory
Y Chromosome Deletion DNA Testing Consent (pdf) General Test Requisition (pdf) Molecular Genetics Laboratory
Zellweger Syndrome Carrier Screening Requisition and Consent (pdf) Expanded Ashkenazi Jewish Carrier Screening brochure (pdf) Molecular Genetics Laboratory
α-Galactosidase A (Fabry Disease) Fabry Consent Form (pdf) Fabry Testing Requisition and Information (pdf) Biochemical Genetics Laboratory