Familial Mutation Testing: Targeted Deletions/Duplications

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Condition Description

Indications

Known mutation testing for a specific deletion or duplication is available for those genes for which we offer full gene del/dup testing. (Please see our test menu for a list of genes for which del/dup testing is offered.) This service can also confirm DNA variations identified in a research laboratory. Such confirmation allows release of research findings to the patient as well as prenatal diagnosis and carrier testing for other at-risk family members. To perform this assay we require details of the genetic variation in the family and a DNA sample from a previously tested individual as a positive control. Please call (404) 778-8500 to discuss this testing prior to sample collection.

Methodology

DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications.

Detection

Over 99% of previously identified mutations will be detected by this assay.

Specimen Requirements

Submit only 1 of the following specimen types

Preferred specimen type: Whole Blood

Type: Whole Blood

Specimen Requirements:

In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Saliva

Specimen Requirements:

OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.

Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

How to Order