Requirements

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 following requisition forms are required for First-Tier Exome™ and Clinical Diagnostic Exome™:

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 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
  • Letter of medical necessity & ICD-9 codes
  • Clinician & patient signatures
  • Copy patient insurance card
  • Copies of previous test results
  • Credit card information 

Required documents can be emailed to CDE@ambrygen.com, uploaded to Ambry’s secure upload page at www.ambrygen.com/secure-upload/ or faxed to (949) 900-5501. 

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.

DNA

  • 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

Cultured Fibroblast Cells:
For exome sequencing, we accept cultured fibroblast cells only

  • Container: Sterile plastic tube.
  • Amount of Cultured Cells: Three T25 cell flasks or suitable alternative at 80% confluence.
  • Storage: 2-8°C up to 72 hours. Do not freeze.
  • Stability: Cultures must be topped off with sterile medium immediately before shipping.
  • Shipping: Ship overnight at ambient temperature, to arrive Monday-Saturday. Please enclose cool packs in summer hot weather.

Turn-Around-Times

Technique WEEKS
First-Tier Exome  10-15
First-Tier Exome, reflex to Clinical Diagnostic Exome

First Tier: 10-15

Second Tier: 24-28
Clinical Diagnostic Exome                                                                                              24-28

Please note: status updates are provided throughout the testing process.