Background:
This single multiplex NBS assay replaces three singular NBS assays that are currently performed for congenital hypothyroidism (CH), cystic fibrosis (CF) and congenital adrenal hyperplasia (CAH). The availability of adequate specimen has become a limiting factor in NBS for adding new conditions. Tandem mass spectrometry (MS/MS) can identify as many as 60 different conditions from a single 3 mm punch. However, CH, CF, CAH and sickle cell hemoglobin opathies are not adaptable to MS/MS. Our single multiplex assay maximizes the use of a single 3 mm punch by utilizing it for three biomarkers. This unique assay addresses several deficiencies in current worldwide NBS testing.
Applications:
- Improved diagnostic assay used to replace three singular NBS tests into a single multiplex assay
- Early detection in infants less than 6 months old or, more typically one day to two weeks old
- Beneficial in veterinary applications to accurately measure concentrations of one or more biomarkers in non-human patients, including primates, or domestic animals such as farm animals and pets, including dogs and cats.
- Improved method of determining one or more biomarkers in a blood sample by measuring concentration of Hb and Hb variants A, F, S, E and C.
Advantages:
- Multiple beads in multiplexing allows multiple biomarkers for a condition i.e. thyroxine (T4) and thyrotropine (TSH) for CH, and/or multiple conditions can be analyzed simultaneously i.e. CH, CF and CAH
- Accurate method of diagnosing CH, CF and CAH in newborns
- Maximizes the use a single 3mm punch from the Guthrie specimen whereas single testing requires a 3 mm punch for each test.
- Expedites assay time, specimen and technician time by identifying three disorders in a single assay
State of Development:
Early research stage of development.
Patents:
PCT US2009/46947
Licensing Potential:
HRI is seeking commercial partners to continue validation of this diagnostic assay and develop kits for large-scale applications. Available for licensing.
The Inventors:
Kenneth Pass, Ph.D.
For 28 years Dr. Kenneth Pass was director of the NYS Newborn Screening Program. During that time he introduced screening for biotinidase deficiency, congenital adrenal hyperplasia, and Krabbe disease. The New York program was the first to use a call-in system by which physicians could obtain test results on any day at any time,the first to provide a portion of the specimen form for the mother to facilitate acquisition of test results, the first to implement HIV testing of all newborns, and the first to test for the LSDs. He has published over 80 peer reviewed papers, eight book chapters, and delivered lectures all over the world on many different aspects of NBS. With funding from NICHD he has developed multiplex assays that screen for CH/CF/CAH (5-plex), SCID (2-plex), and autism (7-plex), all using a single 3 mm spot. Currently his laboratory is developing a multiplex assay for hemoglobin variants that can be added to each of the above, thereby allowing calculation of the hematocrit and normalization of test results.
Barbara Lindau-Shepard, Ph.D.
Publications:
Pass, Kenneth A., and Lindau-Shepard, Barbara A. Newborn Screening for Cystic Fibrosis by Use of a Multiplex Immunoassay. Clinical Chemistry March 2010 56:3, 445–450.
Contact:
Diane L. Borghoff, B.S., M.S.
Marketing & Licensing Associate – Intellectual Property
Health Research, Inc.
150 Broadway – Suite 560, Menands, New York 12204-2719 U.S.A.
Phone 518-431-1213 Fax 518-431-1234
E-mail: DLB22@healthresearch.org Website: www.healthresearch.org
