Test Code: 2330

Familial Mutation Testing: Targeted Deletions/Duplications
Test Code: 2330
Turnaround time: 3 to 4 weeks

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 contact CEN4GEN first 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): 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 CEN4GEN) 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.

SPECIAL INSTRUCTIONS

Please contact CEN4GEN first to discuss this testing prior to sample collection.