The following requisition forms are required for Clinical Diagnostic Exome™:

• Exome Test Requistion, Preverification, & Consent Form - Proband
• Exome Test Requistion Form (Without Consent Form) - Proband
• Exome Test Requistion Form - Family Members

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.

Family History (Pedigree) & Clinical History Information

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 test processing:

• Detailed patient clinical history (can be in the form of a clinic note)
• A copy of the family history (pedigree)
• A copy of previous genetic test results

Specimen Requirements

Blood
Specimen: 6-10 cc blood per patient in purple top EDTA tube (preferred) or yellow top citric acetate tube.
Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.
           Or
Specimen: 20μg (10μg minimum) of DNA in TE or Qiagen EB buffer, 50-100ng/μl by pico green, OD 260/280 of 1.8-2.0 and 260/230 of >1.5, and send picture of agarose gel of DNA run with high mw genomic DNA standards, if available
Storage: -20°C
Shipment: Ship on ice or dry ice for next day delivery

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