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More on Biochemical Genetics
- Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
- Chromosome Abnormalities
- Chromosome Abnormality vs. Single Gene Defect
- Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
- Down Syndrome (Trisomy 21)
- Genetic Services: When, Where, How
- Glossary - Medical Genetics
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Medical Genetics
- Medical History and Genetic Testing
- Mosaic Down Syndrome
- Mosaicism
- Multifactorial Inheritance
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- Overview of Chromosome Abnormalities
- Overview of Single Gene Defects
- Single Gene Defects
- Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
- Studies for Single Gene Defects: DNA (Direct and Indirect)
- Support Groups
- The Human Genome Project
- Trinucleotide Repeats: Fragile-X Syndrome
- Trisomy 18 and 13
- Turner Syndrome
- Types of Chromosome Abnormalities
- Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
- Uses of Genetic Testing
- Vitamin, Gene, and Enzyme Replacement Therapy
- When to Seek Genetic Counseling
- X-linked Agammaglobulinemia
- X-linked Dominant: Incontinentia Pigmenti
- X-linked Recessive: Red-Green Color Blindness, Hemophilia A
For Patients, Families & Visitors
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More on Biochemical Genetics
Hospital News
Genetics
Biochemical Genetics
The Biochemical Genetics Program at NewYork-Presbyterian Morgan Stanley Children's Hospital and Columbia University Medical Center offers diagnostic and management services for children and adults with confirmed or suspected inborn errors of metabolism.
Multidisciplinary teams of physicians and healthcare professionals specializing in these inherited disorders provide comprehensive care, including surveillance and management of symptoms and clinical manifestations.
Early and accurate diagnosis and detection is an essential first step for the appropriate care of individuals born with these complex, often multisystem disorders, giving them the opportunity to build healthy lives, improve their quality of life, and minimize disease burden.
Common reasons for referral include:
- positive newborn screen
- failure to thrive
- developmental delay
- hypoglycemia
- liver failure
- cardiomyopathy in children
- myopathy
For more information on our services, please click on the Biochemical Genetics brochure in the right-hand column.
