essentialmedgen

Directories of gene testing laboratories

These online directories are particularly helpful for finding which laboratories cancarry outgenetic testing for a specific genetic condition.

Laboratory contact details and internet links are usually also provided.

Nat. Genomics Test Directory

UK Nat. Genomics Test Directory (and PanelApp list of gene sets for NGS). Replaced UKGTN. Helpful for identifying laboratories and viewing NGS gene panels (gene sets/lists) in the UK.

Orphanet

Particularly helpful for European laboratories.

EDDNAL (Don't use - being updated)

The European Directory of DNA Diagnostic Laboratories
(EDDNAL). Like Orphanet, it is particularly usef for findingEuropean labs.

Genetic Testing Registry

Particularly good for North American laboratories, although it includes some lab tests elsewhere internationally.

For more details regarding these databases and a user's guide on how to make the most efficient use of these databases, see Part 3 of Essential Medical Genetics 6th Edition