Overview of How to Order ENPP1 and ABCC6 Genetic Testing (SP‑051)

Testing Options

Order Full ENPP1 and ABCC6 Testing Order Targeted Variants How to order testing through myPrevent Portal

Brief Program Overview

No-cost genetic testing is being offered through a program sponsored by Inozyme Pharma. The genetic testing is for Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency and ATP binding cassette subfamily C member 6 (ABCC6) Deficiency. ENPP1 Deficiency causes Generalized Arterial Calcification of Infancy (GACI) Type 1 in infants, and Autosomal Recessive Hypophosphatemic Rickets, type 2 (ARHR2) post infancy. ABCC6 Deficiency causes GACI type 2 in infancy.

Click here for a PDF brochure about the testing program.

For PreventionGenetics to perform the testing, the following is required:

  2. The patient must meet the eligibility criteria for GACI and/or ARHR2 genetic testing (ENPP1 and ABCC6 genes). Please see the Inozyme Pharma Informed Consent Form (ICF) for the eligibility criteria.
    • For an ICF in a language other than English, find available options near the bottom.
  3. The instructions for obtaining and sending a sample must be followed and can be found on page 5 of the SP-051 Inozyme Pharma Test Requisition Form (TRF).
Requirement Checklist

Send the following documents with the patient sample:

  1. A completed SP-051 Inozyme Pharma Test Requisition Form (TRF).
  2. A completed Inozyme Pharma Informed Consent Form (ICF). Ensure it is signed and dated in all the appropriate places.
    • For an ICF in a language other than English, find available options near the bottom.
  3. For prenatal testing or for samples collected in the state of New York, PreventionGenetics also requires additional paperwork and/or samples respectively (see below).

For prenatal specimens:

Prenatal testing must be approved by Inozyme Pharma, and PreventionGenetics is to be notified in advance of sending a prenatal sample.

  • The ordering HCP must contact Catherine Nester, Director of Clinical Operations and Patient Advocacy by email at catherine.nester@inozyme.com or by phone at 717-587-0845 to discuss eligibility and obtain approval for testing from Inozyme Pharma.
  • Please notify PreventionGenetics in advance if you are sending a prenatal sample by calling 715-387-0484, option 2 or emailing support@preventiongenetics.com.

Please include the following for prenatal test requests. Please refer to Page 5 of the TRF for specimen requirements and prenatal testing guidelines.

  1. Signed Prenatal HCP statement
  2. Fetal specimen
  3. At least one parental specimen
  4. Positive control specimen(s) if ordering targeted prenatal testing (Test Code #990). Positive control specimens should be collected from the family member(s) who have known ENPP1 and/or ABCC6 variants. PreventionGenetics tests these positive control specimens to ensure that the familial variants can be detected by sequence technology used in the lab. There will be no reports for positive control specimens.

For specimens of any type collected in the state of New York

  1. Signed New York Healthcare Provider Statement
  2. New York Non-Permitted Lab Approval Letter: Please complete the Non-Permitted Laboratory Test Request Approval Form and fax to the number on the lower left hand side of the form (518-486-2693). Once you have the Approval Letter from New York State, include that with the specimen and/or fax it to PreventionGenetics at 715-384-3661. Samples can be sent to PreventionGenetics while awaiting approval from NY State. The NY approval letter will need to be received prior to the start of testing.

Kits, Shipping and Samples:

Kits and Shipping:

  • Sample collection kits: Blood or saliva sample collection kits, which contain the TRF, ICF, and the shipping label, may be requested by visiting www.preventiongenetics.com/kits.
    • Please select the appropriate number of kits in the ‘Clinical Testing Kits-Blood’ or “Clinical Testing Kits-Saliva” Kit Selection area and enter the shipping and contact information.
    • Please write SP-051 in the Comments field when ordering kits.
    • Ordering kits is free and can be done in advance.
    • Return postage will be included for both US and international clients for this genetic testing program.
    • Either UPS or FedEx return shipping labels can be selected.
    • Kits generally will arrive within 1 week for US locations and 1-1 ½ weeks for international locations.
  • Prepaid shipping labels: If a HCP or clinical site uses appropriate blood or saliva sample tubes (see below) available at their location, and plan to send it in their own kit (following the sample shipping instructions), a prepaid shipping label can be requested by PreventionGenetics by visiting www.preventiongenetics.com/kits.
    • Please select “Labels Only” in the “Full Kits or Mailing Labels Only?” section at the top of the page. Please write in the number of shipping labels requested and the shipping and contact information.
    • Either UPS or FedEx return shipping labels can be selected.
    • The shipping label will be sent via e-mail. Allow 1-2 business days to receive the shipping label.
  • Shipping Instructions: General shipping and handling instructions are on page 5 of the TRF. Please reference the International Shipping Instructions for directions on how to ship samples from outside the US.


  • For blood or saliva samples: Blood samples are the preferred sample type, when possible. A sample collection kit can be requested from PreventionGenetics, which contains the blood or saliva collection tube, TRF, ICF, and a shipping label. Alternatively, for blood samples, the ordering physician can collect 3-5 mls of whole blood in an EDTA (lavender; K2EDTA or K3EDTA) or ACD (yellow) top tube available at his or her location. For saliva samples, Isohelix™ or GeneFiX™ Saliva Collection kits may also be used for testing according to manufacturer instructions. If using blood or saliva tubes from the clinic site, the HCP will download the TRF and ICF. A pre-paid shipping label will need to be requested from PreventionGenetics (see instructions above).
  • For prenatal specimens: The HCP or clinic site will need to provide their own containers for cell cultures and/or DNA samples. These types of samples can be sent in a PreventionGenetics kit box or their own boxes provided they follow the instructions for packaging and shipping the samples. In this scenario, providers can request a pre-paid shipping label from PreventionGenetics.

Turnaround Time: From the time the sample is received at PreventionGenetics with all the completed and appropriate paperwork, the anticipated time it will take for the results to be reported to the ordering HCP is 14 calendar days, with the exception of targeted prenatal testing, which has a turnaround time of 8-10 days.


  • Questions about eligibility for genetic testing on a prenatal sample can be directed to Catherine Nester, Director of Clinical Operations and Patient Advocacy by email at catherine.nester@inozyme.com or by phone at 717-587-0845.
  • Questions about how to order testing can be directed to PreventionGenetics at 715-387-0484, option 2 orsupport@preventiongenetics.com. Please mention SP-051 when calling or emailing.

For more information about ENPP1 and ABCC6 genetic testing through Inozyme Pharma, please visit http://www.inozyme.com/genetic-testing.

Translated Informed Consent Form