Familial Mutation Testing: Targeted Sequencing

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Condition Description


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 call (404) 778-8500 to discuss this testing prior to sample collection.


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


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

Specimen Requirements

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).

Submit only 1 of the following specimen types

Preferred specimen type: Whole Blood

Type: Whole Blood

Specimen Requirements:

In EDTA (purple 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.

Special Instructions

Please call (404) 778-8500 to discuss testing and to obtain prices prior to sample collection.

How to Order