Prenatal testing: Targeted gene deletion/duplication analysis
Test Code: 852330P
Turnaround time: 2 weeks
CONDITION DESCRIPTION
INDICATIONS
Testing a specific deletion or duplication for any previously characterized pathogenic or likely pathogenic DNA variation in a family. To perform this assay we require details of the genetic variation in the family. Please contact CEN4GEN first to discuss this testing prior to sample collection.
METHODOLOGY
The region of DNA surrounding and including the mutation is subject to deletion and duplication analysis via CGH.
DETECTION
Analytical sensitivity: 99%
SPECIMEN REQUIREMENTS
CEN4GEN requires a blood sample from the mother, as well as a fetal sample.
As far as fetal sample requirement (other than fetal blood):
Direct chorionic villus sampling (CVS), at least 10 mg is needed.
For direct amniocentesis, at least 10 ml is needed.
For cultured chorionic villus sampling (CVS) or amniocytes, two T-25 flasks are needed.
Type: Whole Blood from mother
Specimen Requirements:
In EDTA (purple top) or ACD (yellow top) tube: 5 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery (if possible).
