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Molecular and Cytogenetic Testing: Inherited Disorders Services

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Inherited Services
Service Name

Biochemical Disorders

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Classic Cytogenetics

The new UCSF Cytogenetics Laboratory was established in 2005 at UCSF’s China Basin laboratory facility. It has been certified by CLIA (Clinical Laboratory Improvement Act), CAP (College of American Pathologists) and California State Department of Health Services for providing clinical testing. The laboratory provides both standard and molecular cytogenetics analysis on a variety of specimens, including prenatal specimens, postnatal specimens, products of conception, and cancer specimens. In particular, the laboratory is specialized with chromosome microdissection-based techniques that allow us to readily and precisely characterize chromosomal abnormalities that other methods may not be able or very difficult to characterize. In addition, the laboratory also provides cytogenetics analysis for stem cells and other cultured cells/cell lines for research and other purposes.

  • Director
  • Jingwei Yu, PhD
  • Clinical Laboratories
  • 185 Berry Street, Suite 290
  • San Francisco, CA 94107
  • Phone: 415-353-4844
  • Fax: 415-353-4877

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Hearing Disorders

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Hematological Disorders

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Imprinting Disorders

Mendelian genetics has taught us that the paternal and maternal alleles of a gene are expressed in the cell and backup each other up if either allele looses its expression as a result of a deleterious mutation. Although simplistic, this scheme does not appear to be universal for all genes. In fact, there are some regions of the human (and mouse) genome whereby the expression of an allele is controlled by its parental origin. The understanding of mechanisms underlying this process, called parental imprinting constitutes a challenging frontier in genetics. Even more remarkable is the fact that two segments of the genome located next to each other are reversibly imprinted, such that one segment is paternally imprinted whereas its adjoining segment is maternally imprinted. This phenomenon normally occurs on a segment of the long arm of human chromosome 15 such that when this process is disrupted, Prader-Willi (PWS) or Angelman syndromes (AS) develop.

PWS and AS are two completely different clinical disorders. PWS is characterized by obesity, short stature and hypogonadism whereas AS is exhibited by epilepsy, difficulties in walking and a curiously happy temperament associated with frequent unjustified bouts of laughter that earned the syndrome the nickname of “happy puppet syndrome”.

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Neurological Disorders

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