Medical Genetics Test Details

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The American Medical Association (AMA) Current Procedural Terminology (CPT) codes and Healthcare Common Procedure Coding System (HCPCS) codes listed, are provided for informational purposes only. The codes reflect our interpretation of CPT/HCPCS coding requirements based upon AMA guidelines published annually. CPT/HCPCS codes are provided only as guidance to assist clients with billing. Baylor Genetics strongly recommends that clients confirm CPT/HCPCS codes with their Medicare Administrative Contractor (MAC) or other payer being billed, as requirements may differ. CPT coding is the sole responsibility of the billing party. Baylor Genetics assumes no responsibility for billing errors due to reliance on the CPT codes listed. Please direct any questions regarding CPT coding to the payer being billed.

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Trio Whole Exome Sequencing
Test Information:	Indications for Testing The Trio Whole Exome Sequencing (trio WES) test is ordered by a physician and must be accompanied with a 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. In some cases, the patient may have had an extensive evaluation consisting of multiple genetic tests, without identifying an etiology. In other cases, a physician may opt to order the Whole Exome Sequencing test early in the patient's evaluation in an effort to expedite a possible diagnosis. - Patient with undiagnosed genetic syndrome Note: Parental samples are required to interpret trio WES results. See below and requisition for sample requirements and further details. Testing cannot be requested unless both parents submit samples for testing.
Test Details
Test Code:	1600
Special Notes:	The Trio Whole Exome Sequencing test is a highly complex test that is newly developed for the identification of changes in a patient's DNA that are causative or related to their medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, the Trio Whole Exome Sequencing test will analyze the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques. The principle of the test is to sequence nucleotide by nucleotide, the human exome of an individual to a depth of coverage necessary to build a consensus sequence with high accuracy. This consensus sequence is then compared to standards and references and the parental WES data and the result is interpreted by board-certified laboratory directors and clinicians. By sequencing the exome of a patient and their parents and then comparing it to normal reference sequence, variations in an individual's DNA sequence can be identified and related back to the individual's medical concerns in an effort to discover the cause of the medical disorder. For more information on specific coverage, click here: Whole Exome Sequencing Version 3 Coverage Search Tool To order this test with the Comprehensive mtDNA Analysis by Massively Parallel Sequencing (MitoNGS^SM) (#2055) please use test code 1532, see requisition. For pricing information for test code 1532 please call.
Technical Information
Methodology:	Exome Capture and Next Generation Sequencing

Sample & Shipping Information
Test Requisition:	WES Advantage
Specimen Type:	Blood
Requirements:	Draw blood in an EDTA (purple-top) tube(s) for the patient and both parents. Send at least 5cc (children) or 10cc (adults).
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Specimen Type:	Buccal Swab
Requirements:	Collected with ORAcollect.Dx (OCD-100) self-collection kit (provided by Baylor Genetics with instructions). It is highly recommended the sample be collected by a healthcare professional.
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Specimen Type:	Cultured Skin Fibroblast
Requirements:	Send 2 T25 flasks at 80-100% confluence.
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Specimen Type:	Purified DNA
Requirements:	Send at least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7) for the patient and both parents.
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Billing Information
Turn Around Time:	6 weeks
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	81415x1, 81416x2

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