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Updated: Jan 9, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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Lifesaving Diagnosis Through Prenatal Genomic Sequencing.
Andrew P Fennell1, Tony Roscioli, Michael Buckley
1Monash Genetics, Melbourne, Victoria (A.P.F.); New South Wales Health Pathology Randwick Genomics, Sydney (T.R., M.B.); Monash Children's Hospital, Melbourne, Victoria (A.E.H., P.P., L.M.C.); and Neuroscience Research Australia, Sydney (S.L.), Australia.
Obstetrical & Gynecological Survey
|December 11, 2025
Summary
Congenital thrombotic thrombocytopenic purpura (TTP) is a rare genetic disorder. It is caused by a deficiency in the ADAMTS13 enzyme, leading to severe blood clotting complications.
Area of Science:
- Hematology
- Genetics
- Rare Diseases
Background:
- Congenital thrombotic thrombocytopenic purpura (TTP) is a rare inherited thrombotic microangiopathy.
- It results from a deficiency in the ADAMTS13 enzyme, crucial for regulating von Willebrand factor.
- This deficiency leads to the accumulation of ultralarge von Willebrand factors, causing microvascular thrombosis.
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