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Our child has been diagnosed with LCA. Why are we being asked for “parental” samples? Neither of us is affected.

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LCA (Leber congenital amaurosis) is an autosomal recessive disorder (except for CRX-associated LCA) so it comes as no surprise that neither you nor your spouse are affected. However, your DNA samples may be very useful in helping us confirm the genetic variation causing your child’s condition.

When ordering a genetic test for an autosomal recessive inherited disease, DNA samples from the patient’s parents should be sent at the same time the patient’s sample is sent whenever possible. A separate online requisition is required for each sample. (See this page for more information.)

Parental DNA will be screened for all plausible disease-causing genetic variations once identified in the affected patient to make sure that variations we suspect to be responsible for the patient’s disease are inherited in the correct pattern. Screening of the parents is considered a standard part of the patient’s test and is performed at no additional charge.

Note: A separate report will not be issued for parental samples as a statement regarding parent’s results is included in the child’s report.

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Retrieved Thu, 2019-05-23 10:38
Last modified Tue, 08/10/2010 - 10:23
www.carverlab.org/faqs/project3000/lca-parental