Test Code: 6875

Familial Mutation Testing: Targeted Sequencing
Test Code: 6875
Turnaround time: 3 weeks

CONDITION DESCRIPTION

INDICATIONS

Custom DNA sequencing testing is available for any previously characterized DNA variation in a family. 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

The region of DNA surrounding the mutation is amplified by PCR and sequenced in both the forward and reverse direction.

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 REQUIREMENTS

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