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Clinical
Diagnostic Laboratory Tests
Description
of services in CLIA certified laboratories:
Molecular
Diagnostics
- DNA mutation testing for twenty
single gene disorders, Ashkenazi Jewish panel, thrombophilia,
mitochondrial DNA disorders, cystic fibrosis
- DNA sequence analysis for disease
predisposition genes
- RT-PCR
Cytogenetics
- Chromosome and FISH analysis on
amniotic fluid, peripheral blood, products of conception, fibroblasts,
bone marrow, lymph node and solid tumors
Diagnostic
Microarray Services
- Microarray-based comparative genomic
hybridization for mental retardation/developmental delay (Agilent
Array)
- Affymetrix Gene Expression, SNP
analysis and Targeted Genotyping available in our clinical lab
at the Center for Applied Genomics
Biochemical
Genetics
- Amino acid and organ acid disorders,
mucopolysaccharidoses, defects of carnitine metabolism
Proteomic
Diagnostics
Clinical
proteomic assays using Mass Spectrometry Immunoassay (MSIA) technology
which couples antibody affinity capture to mass spectrometry
Infectious
Disease Testing
Contact
person and details: Deanna Streck
streckdl@umdnj.edu
Tel:
973-972-3170
Fax:
973-972-3783
Diagnostic Tests
Prenatal
Maternal Serum Alpha-Fetoprotein and Other Serum Markers
Prenatal Testing-Amniotic Fluid
Prenatal Testing-Chorionic Villi
Molecular
Cystic
Fibrosis
Fragile X Syndrome
Leber
Hereditary Optical Neuropathy (LHON) and Mitochondrial Encephalomyopathies
(MELAS, MERRF and NARP)
Alpha-1-Antitrypsin Deficiency
Prader-Willi Syndrome
and Angelman Syndrome
Duchenne/Becker Muscular Dystrophy
Gaucher Disease
Tay-Sachs Disease
Primary Venous Thrombosis
Due To A Common Factor V Mutation
DNA Banking
Screening for Apolipoprotein E
(Alzheimer Disease Susceptibility Gene) in Dementia Patients
Genetic Testing for Breast and
Ovarian Cancer BRCA1 and BRCA2 Common Mutations in the Ashkenazi
Jewish Population
Spinal Muscular Atrophy
Comparative
Genomic Hybridization
Diagnosis
of Mental Retardation/Developmental Delay
Biochemical
Amino
Acid Disorders
Galactosemia
Biotinidase Deficiency
Organic Aciduria
Mucopolysaccharidoses: Screening by Analysis of Glycosaminoglycans
Defects of the Carintine
Cycle
Cytogenetics
Cytogenetics
Tests Available
Prenatal
Testing-Amniotic Fluid
Prenatal Testing-Chorionic
Villi
Products of Conception Tissues from Aborted/Miscarried Fetuses
Blood Chromosome Analysis
Peripheral Blood Analysis-Special
Techniques High Resolution Banding
Microdeletion Studies Using Fluorescence in Situ Hybridization
Cancer
Fluorescent
in situ Hybridization (FISH) for Hematological Maligancies and Solid
Tumors
Familial
Cancer Program
Non-Random Chromosomal Abnormalities in Hematological Malignancies
Cytogenetics of Solid Tumors
Breast Cancer
Infectious
Disease
T.Spot.TB
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