PRENATAL DIAGNOSIS
BY AMNIOCYTES OR CHRONIC VILLI

UCSD Cystine Determination Laboratory

Email: cystine@ucsd.edu

Lab Contact: Click here for contact information

Prenatal diagnosis of cystinosis in the fetus can be made from chorionic villus or amniocyte cultures. Contact the lab for request forms and instructions and to alert personnel to receive culture.

Cells are cultured at the donor laboratory in duplicate. One partially confluent T-25 flasks is filled with media, sealed, and shipped at room temperature in some type of insulated container by an overnight courier. Enclose Request for Analysis and Billing forms and information about the sample including gestational age and type of medium.

Amniocytes: (nmol half cystine/ mg protein)

Unaffected    0.1 ±0.05 n=17 (.04 - 0.2 )
Affected     2.7

Chorionic villi (cultures): (nmol half cystine/ mg protein)

Unaffected     0.21± 0.07 n=8 (0.12 - 0.24)
Affected       9.7, 7.3, 4.8

Cystinosis Central Cystine Determination Lab Description of Tests & Services