Screening to detect heterozygote carriers for a genetic condition should be done in accordance with specific guidelines. These are intended to provide optimum care for both affected and unaffected persons.

Guidelines for screening programs:

(1) Screening should be voluntary.

(2) Testing and the results must be kept confidential.

(3) Informed consent is required for testing.

(4) The screening program must include adequate education and counseling.

(5) The testing laboratory must participate and perform acceptably in quality control, quality assurance and proficiency programs.

(6) Access to testing should be equal for all persons at risk.

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