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Alternate Specimen Collection Kits for Genetic Testing

Important Note

If the patient had a genetic test perfomed in the SCH in-house lab within the last year, there may be residual DNA available to add onto or send out for additional genetic testing. Please email the Lab DNA Bank team to check on the availability of residual DNA or with questions about this.

Getting Started

See the Epic guide for navigating preauthorization and genetic test coordination

 

Background

  • Blood is often the preferred sample type for genetic testing due to the large amounts of high-quality DNA that can be extracted from the white blood cells. However, alternate samples types, like saliva and buccal cells, can provide enough DNA to perform most genetic testing. These samples may be easier to collect or preferred for testing based on the clinical scenario.
  • It is up to the clinician to decide the best sample type for each test. Certain clinical scenarios may require a specific sample type in order to provide the most accurate genetic test results.  For example, affected tissue may be preferred over blood in a patient with a suspected mosaic condition, but saliva or buccal may be preferred over blood in a patient who has had a bone marrow transplant.
  • The following alternate sample kits are offered by many reference labs. Refer to the table below or the specific reference lab’s website for the type(s) of alternate specimen(s) accepted by the laboratory for genetic testing.
    • Saliva Kit: Donor physically provides a saliva sample by spitting directly into a collection funnel and tube. The DNA from saliva samples is extracted from the cheek skin (buccal) cells and white blood cells in the saliva.
    • Assisted Saliva Kit: An absorbent swab is used to soak up the saliva in the mouth of the donor, then the swab is wrung out into a collection funnel and tube. This action is repeated until the correct volume of saliva has been collected. The DNA from assisted saliva samples is extracted from the cheek skin (buccal) cells and white blood cells in the saliva.
    • Buccal Kit: A swab is used to brush the inside surface of the cheek and along the gumline to collect cheek skin (buccal) cells. The DNA from buccal samples is extracted from those cheek skin cells.

Helpful Hints

  • It is critical to clearly follow the instructions for alternate specimen collection to prevent the need for recollection. Alternate specimen kits always incur the risk of needing to recollect.
  • Not all labs with saliva kits offer an assisted saliva collection method. Labs with an assisted saliva kit option are noted below. If the kit option is listed as saliva only, there is no assisted version available.
  • Saliva kits (non-assisted versions) are not recommended for children under 2-3 years old. The donor must be able to spit directly into the collection tube on their own.
  • Buccal swab kits are a better option for young children and babies, and for people who may not be physically able to give a saliva sample.
  • SCH in-house testing offered on saliva samples is not validated for children less than 6 months old. Additionally, not all in house tests accept saliva samples. Please refer to the LabMan page for each specific test.

 

Sample Stability: Refer to any specific requirements on the performing refernece lab's website, but if the kit is not expired, samples are typically stable for 60-90 days after collection

 

How to Request a Kit for Your Patient

Note: If the patient had a genetic test perfomed in the SCH in-house lab within the last year, there may be residual DNA available to add onto or send out for additional genetic testing. Please email the Lab DNA Bank team to check on the availability of residual DNA or with questions about this.

 

Kit Request Handoff Form – Download here

  1. For external clients (non-Seattle Children's Patient's), please use the External Client Kit Request Form – Download here

Tests performed for a charge: If an alternate specimen is acceptable, please follow the steps below to collaborate with the SCH Reference Lab Team for remote sample collection of testing that will be performed at a charge to the patient. Insurance preauthorization is required before testing can be coordinated.

  1. Provider enters test order(s) in Epic as "Active - Future"
  2. Care team communicates outcome of preauth to family, lets them know that a kit will be mailed to them for sample collection, and the kit should be sent back in the envelope provided. Care team confirms patient’s preferred mailing address during this communication
  3. Care team completes kit request handoff form and emails to Reference Lab Team with clinical history documentation ± lab requisition, if needed
  4. Reference Lab Team sends kit to family
  5. Patient collects sample & returns to SCH Reference Lab Team in envelope provided
  6. Reference Lab Team activates orders once sample received

 

Collected Kit Drop Off Instructions (for saliva/buccal specimens collected in clinic): View instructions

 

Kits Available for Alternate Specimen Collection

Reference Lab Available Kit Option(s) Kit Model # Notes
SCH
  • Saliva
  • Assisted Saliva
  • OGD-575
 Oragene OGD-575 kit allows for both assisted and unassisted saliva sample collection. Saliva/Assisted Saliva is not accepted for tests performed in the SCH laboratory from babies less than 6 months old.
 
GeneDx
  • Buccal
  • OCD-100
 GeneDx kits include 4 buccal swabs per kit.
PreventionGenetics
  • Buccal
  • Saliva
  • OCD-100
  • GFX-02
 Saliva and buccal are both generally accepted sample types at PG. Saliva is preferred over buccal if the donor is physically able to give the sample and/or is clinically indicated due to greater amount of DNA collected in a saliva sample.
UW NCGL/CDL/CPDx & UWMC (includes exomes)
  • Saliva
  • Assisted Saliva
  • OGD-500
  • OGD-575
  
Blueprint Genetics
  • Buccal
  • OCD-100
 Saliva and assisted saliva kits have been phased out. BP will still accept saliva kits but has transitioned to providing buccal kits only.
UAB
  • Saliva
  • Assisted Saliva
  • OGD-575
 Oragene OGD-575 kit allows for both assisted and unassisted saliva sample collection.
Invitae
  • Buccal
  • Saliva
  • OCD-100
  • OGD-510
  
MNG
  • Buccal
    
U of Chicago
  • Buccal
  • Saliva
  • OCD-100
  • OGD-500
  
U of Iowa (MORL)
  • Buccal
  • Saliva
  • OCD-100
  • OGR-500
 U of Iowa MORL's buccal kits include 4 buccal swabs per kit.
U of Pennsylvania
  • Saliva
  • Assisted Saliva
  • OGR-575
 Oragene OGR-575 kit allows for both assisted and unassisted saliva sample collection.
CTGT
  • Saliva
  • Assisted Saliva
  • OGD-575
 Oragene OGD-575 kit allows for both assisted and unassisted saliva sample collection.
Lineagen
  • Buccal
    
Baylor
  • Saliva
  

 
Johns Hopkins
  • Saliva
    
Myriad
  • Saliva
  • OGD-510
  
Ambry
  • Saliva
  • OGD-575
 Ambry's kit includes 2 assisted saliva collection containers per kit.
PerkinElmer
  • Buccal
  • OCD-100
  
LabCorp
  • Buccal
  • OCD-100
  
UCLA
  • Saliva
    
OHSU (Knight Diagnostic Laboratories)
  • Saliva
  • OGR-500
 OHSU's kit includes 2 saliva collection containers per kit.

 

Resources for Sample Collection

  • Printable Instructions: 
    • SCH Assisted Saliva Kits: Refer to the "How to Collect a Saliva Sample: Oragene DX OGD-575 or OGD-675 test kit" document (PE3050) on CHILD.
      • Multiple languages available! Translations to other languages done by request.
    • DNA Genotek Brand Kits (widely used by many labs), various languages available: 
      • Saliva Kit (used by UW and many others): OGD-500/600  
      • Assisted Saliva Kit (used by SCH, UAB, U Penn, and CTGT): OGD-575/675
      • Buccal Swab Kit (used by Blueprint, GeneDx, PreventionGenetics, and most labs that offer buccal kits):
        • Refer to the "How to Collect a Buccal Sample: ORAcollect Dx OCD-100 testing kit" document (PE4099) on CHILD.
          • Multiple languages available! Translations to other languages done by request.
    • Isohelix Brand Saliva Kit (used by PreventionGenetics)
      • Refer to the "How to Collect a Saliva Sample: GeneFix GFX-02 testing kit" document (PE4100) on CHILD.
        • Multiple languages available! Translations to other languages done by request.
  • Video Instructions