The embryonic genome allowed us to perform a genomewide diagnosis of mendelian disorders
, including 83 common mendelian disorders
in the clinic involving 384 genes (Fig.
This is particularly true as we begin screening populations not previously evaluated for Mendelian disorders
Recent successes utilizing exome sequencing in diagnosing rare Mendelian disorders
In rare cases, the source of the genetic contribution to the effects of smoking is clear--single-gene Mendelian disorders
such as [alpha.
Gene pooling has given rise to increased susceptibility to certain rare Mendelian disorders
among such groups as the Amish, the Ashkenazi Jews, the French Canadians, and the Afrikaners.
These tests, which are performed in CLIA-certified laboratories, are mainly for mendelian disorders
with well-established causal relationships between genes and diseases.
Currently, GeneDx offers testing for over 300 rare Mendelian disorders
using DNA sequencing and deletion/duplication analysis of the associated gene(s).
Another 43% have been for structural abnormalities, particularly of the central nervous system, and 4% were for mendelian disorders
PGD can be potentially used for prenatal genetic testing of cytogenetic and Mendelian disorders
in embryos prior to being implanted in patients undergoing assisted reproductive technology (ART).
Chromosomal abnormalities cause some miscarriages but more likely explanations are Mendelian disorders
(single-gene anomalies) or polygenic multifactorial disorders, he said.
Mitter's expertise encompasses Prenatal, Postnatal and Cancer Clinical Cytogenetics and Molecular Genetics, as well as Genetic Counseling for prenatal state, inheritable cancers and all types of Mendelian disorders
Since I spoke at this Forum in 1993 (1), the emphasis in human genetics research has shifted from rare Mendelian disorders
to common, complex diseases, but "Issues of benefits and risks of genetic testing", the title of my earlier presentation, have, if anything, become more important.