Familial Mutation Testing: Targeted Sequencing
Last updated: 03-DEC-13 AM | PDF View | Email Page
SynonymsKnown Mutation Analysis
Test Code KM
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 call (404) 778-8500 to discuss this testing prior to sample collection.
MethodologyThe region of DNA surrounding the mutation is amplified by PCR and sequenced in both the forward and reverse direction.
Special InstructionsPlease call (404) 778-8500 to discuss testing and to obtain prices prior to sample collection.
DetectionOver 99% of previously identified mutations will be detected by this assay.
Turnaround Time 2 weeks
Type Requirements Shipping
Whole BloodIn 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
Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
SalivaOrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
CPT Codes 81403 (x1)

cap certification
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