Therefore, medical uses of PGD for selection of a female offspring to prevent the transmission of X-linked Mendelian recessive disorders are often applied.

Also, genetic analyses of genes known to cause some simple Mendelian disorders have proven negative for collections of patients with IA [ 16 17 ] .

The result was the identification of the faulty DNA in over a dozen Mendelian disorders in 2010.

GeneDx currently performs testing for more than 200 rare Mendelian disorders using DNA sequencing and deletion/duplication analysis of the associated gene(s).

For highly penetrant Mendelian genetic disorders such as Huntington's disease virtually all the incidence of the disease is due to genetic differences.

Mendelian disorders known to be associated with an increased risk of stroke include hemoglobinopathies, dyslipoproteinemias, and cardioembolic disorders [ 5 ] .

The number of common Mendelian disorders found among Romanies from all over Europe indicates "a common origin and founder effect".

There are many benefits to exome sequencing in the detection of rare causal variants of Mendelian disorders as opposed to whole genome sequencing or traditional linkage studies:

The majority of genetic variants that underlie mendelian disorders disrupt protein-coding sequences.

This was the first reported study that used exome sequencing as an approach to identify an unknown causal gene for a rare mendelian disorder.