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Families will undergo a detailed informed consent process with their clinical genetic counselor. As part of the consent process, an overview and explanation of exome sequencing and the limitations are discussed with the patient, as well as options for results blinding.
The patient may choose whether to be given results information regarding recessive disorders, late-onset disease and cancer pre-disposition syndromes.
Because of the complex nature of exome sequencing, it is essential that Ambry is informed of the complete clinical picture. Providing more details regarding the phenotype can only improve the interpretation of results.
The following items are required for processing:
Cultured Fibroblast Cells:
For exome sequencing, we accept cultured fibroblast cells only
Turn-Around times begin once insurance is authorized and all requirements are received. Pre-verification is encouraged
|Clinical Diagnostic Exome||
|First-Tier Exome, reflex to Clinical Diagnostic Exome||8-16|
Please note: status updates are provided throughout the testing process.