Medical Genetics Test Details

View Custom Req | Tests in Custom Req: 0

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.

Print Req

Duo Whole Genome Sequencing
Test Information:	Whole Genome Sequencing (WGS) is a highly complex, comprehensive genetic test that looks at the entire human genome (up to 98%), as opposed to only the exome (the coding regions of human DNA), which only accounts for about 2% of the human genome or at only specific genes. With this level of coverage, WGS has the advantage of being a single test that can detect genetic variants that may not be recognized from a test that is highly specific or only targets the exome. WGS includes coverage on all genes and currently reports on single nucleotide variants/indels (SNVs), copy number variants (CNVs), structural variants (SV), absence of heterozygosity (AOH), mitochondrial variants and trinucleotide repeats.
Test Details
Test Code:	1803
Special Notes:	Whole Genome Sequencing can benefit patients who need a combination of comprehensive genetic testing (e.g., exome sequencing and chromosomal microarray analysis). This test is recommended for patients with an undiagnosed genetic syndrome who have an underlying genetic etiology (based off the patient?s medical history and physical exam), have exhausted all genetic testing options, and/or need to expedite a possible diagnosis. Parental sample is required to interpret duo WGS results. See below and requisition for sample requirements and further details. Testing cannot be requested unless the parent submit samples for testing.
Technical Information
Methodology:	Next-Generation Sequencing

Sample & Shipping Information
Test Requisition:	Whole Genome Sequencing
Specimen Type:	Blood
Requirements:	• 3-5 cc (2 yrs-adult), 2-3 cc (newborn-2 yrs) in EDTA (purple-top) tube (molecular testing). • Attach clinical notes and concurrent laboratory reports (such as CBC, flow cytometry results, and pathology reports). • Concurrent laboratory reports may be sent later as soon as they become available.
Shipping Conditions:	Ship at room or refrigerated temperature in an insulated container by overnight courier. Do not heat or freeze. Specimen should arrive in laboratory within 24-48 hours of collection.
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 Cell Lines
Requirements:	Send two T25 flasks at 80-100% confluence.
Shipping Conditions:	•Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. •Cell line specimens should arrive in the laboratory within 48 hours of collection. •Do not heat or freeze.
Specimen Type:	DNA (Extracted)
Requirements:	• At least 20 ug with a minimum average concentration of 50 ng/µL. • Attach clinical notes and/or concurrent laboratory reports as applicable. • Please send a corresponding representative H&E slide if available. • Extracted DNA will only be accepted if the isolation of nucleic acids for clinical testing occurs in a CLIA certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS.
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. May also be shipped frozen on minimum of 10 lbs of dry ice in an insulated container by overnight courier
Specimen Type:	Saliva
Requirements:	Collect with Oragene DNA Self-Collection Kit
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Billing Information
Turn Around Time:	10 weeks
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	81425, 81426x1

Return to test index