Medical Genetics Test Details

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BluePrint Proband Whole Exome Sequencing
Test Information:	This test is ONLY available as a reflex order following completion of BluePrint panel (test code 1300) or Total BluePrint panel (test code 1390). Indications for Testing: The BluePrint Proband Whole Exome Sequencing is indicated if BluePrint Panel (test code 1300) does not identify a molecular diagnosis for the patient. The test must be ordered by a physician, be accompanied with a signed consent form, and detailed clinical information. In general, the test is used when a patient's medical history and physical exam findings strongly suggest that there is an underlying genetic etiology.
Test Details
Test Code:	1399
Special Notes:	Parental samples, if not previously received, are required to interpret proband BluePrint Proband Whole Exome Sequencing results. See requisition for sample requirements and further details. Regarding Specimen Type: Sample previously received for BluePrint Panel will be used. If not enough sample is remaining the laboratory will notify of additional needed sample when BluePrint Proband Whole Exome Sequencing order is received. For more information on specific coverage, click here: Whole Exome Sequencing Version 3 Coverage Search Tool
Technical Information
Methodology:	Exome Capture and Next Generation Sequencing

Sample & Shipping Information
Test Requisition:	Please call client services at 1-800-411-4636 to obtain requisition.
Specimen Type:	Blood
Requirements:	Sample previously received for BluePrint Panel will be used. If not enough sample is remaining the laboratory will notify of additional needed sample when BluePrint Proband Whole Exome Sequencing order is received.
Shipping Conditions:	See Requirements.
Specimen Type:	Cultured Skin Fibroblast
Requirements:	Sample previously received for BluePrint Panel will be used. If not enough sample is remaining the laboratory will notify of additional needed sample when BluePrint Proband Whole Exome Sequencing order is received.
Shipping Conditions:	See Requirements.
Specimen Type:	Purified DNA
Requirements:	Sample previously received for BluePrint Panel will be used. If not enough sample is remaining the laboratory will notify of additional needed sample when BluePrint Proband Whole Exome Sequencing order is received.
Shipping Conditions:	See Requirements.

Billing Information
Turn Around Time:	10 weeks
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	81415x1