Table 2 Additional testing and information offered by the eight DNA diagnostic laboratories to the clinical geneticists

From: Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines

Additional information or tests offered

Number of centres

Report the detected UV to the requesting counselor

7

UV has a high probability of being pathogenica

4

UV has been detected beforea

4

Co-segregation analysis of variant and disease

7

Loss of heterozygosity analysis of tumour tissues

5

Investigating mRNA for splice-defects

3

Presymptomatic testing of UV

0b

  1. aAs published in the literature or in the BIC database.
  2. bThree consider it in special cases and one laboratory considers this to be the decision of the clinical geneticist.
Back to article page