Terms and Conditions – Tests

ScoliGEN – Information for Applicants

ScoliGEN is a genetic test developed by EpiDisease S.L (Diagnostic centre authorized by the
Valencian Ministry of Health No. 22325) that assesses susceptibility to developing Adolescent Idiopathic Scoliosis (AIS).

This test is based on the analysis of 20 single nucleotide polymorphisms (SNPs), located in genes associated with the risk of disease onset and progression. A polymorphism is a variation at a single DNA position among individuals, with a frequency in the general population greater than 1%.

A genotype is a classification of the variant type present at a specific location (locus) in the DNA sequence. The combined analysis of genotypes obtained through qPCR in the ScoliGEN test provides a risk value for AIS.

ScoliGEN results do not change over time, so the test can be performed at any point in the patient’s life without affecting the outcome, even if no clinical symptoms of AIS are present, and it has no adverse health effects.

The test is performed through self-sampling of a saliva sample, making it a non-invasive, less uncomfortable, and painless procedure.

The results obtained with ScoliGEN, together with the specialist physician’s assessment, provide more complete information for addressing the onset or predisposition to AIS in a personalized and efficient manner. The test result does not necessarily indicate the development of the deformity and must be evaluated in a broader context considering other clinical variables.

The test price is €450 (VAT included).

What is the basis for the result obtained with ScoliGEN?

The ScoliGEN test is designed to genotype DNA samples via PCR and determine the genetic predisposition to developing AIS. It is not intended for use in other scoliosis-related disorders.
Genotyping of these variants is performed via qPCR using TaqManTM Genotyping Assays. The resulting genotypes are weighted into a polygenic risk score and classified as high or low risk based on the results.

Advantages of ScoliGEN
✓ High sensitivity (90%)
✓ Non-invasive test
✓ Results within 3 weeks after sample reception at the lab
✓ Enables planning of a personalized approach to AIS risk

Who is the ScoliGEN test for?

This test is recommended for children and adolescents with a family history of AIS. Early detection is crucial to ensure appropriate management and follow-up scheduling to avoid diagnoses at more severe stages of the deformity.

Since the test result does not vary over time, it can be useful at any stage of life.

Sample type

Saliva is the sample used to obtain DNA.

The patient is provided with a CE-IVD marked saliva collection device with preservative, including instructions indicating the procedure and volume to collect during autonomous sampling.
The sample is stored at room temperature until sent to the laboratory.

Test requirements
✓ Medical prescription.
✓ Informed consent signed by the test applicant, or in the case of minors, by the legal representative.
✓ Purchase of the ScoliGEN test through the EpiDisease S.L website and acceptance of the terms and conditions of service.

Required documentation

  • Informed Consent (IC): The physician is responsible for obtaining and safeguarding this document. EpiDisease S.L will provide an IC template to be completed by the test applicant (or legal representative), which is essential for completing the request during the purchase process on the ScoliGEN portal. Two signed copies of the IC are required, one for the physician and one for the applicant.

ScoliGEN test request, sample collection, and result delivery process

  1. The physician prescribes the test and provides the patient with all relevant information: what the test involves, required documentation, sample collection, test request via the ScoliGEN portal, and result delivery.
  2. The applicant completes the IC.
  3. The physician gives the applicant the sample collection kit:
    • Saliva collection device and instructions.
    • Identification code label to ensure sample traceability and link the sample to the test request on the ScoliGEN portal.
      • Three identical labels are provided to the physician:
        • 1st label: affixed to the informed consent (applicant’s copy)
        • 2nd label: affixed to the informed consent (physician’s copy)
        • 3rd label: affixed to the sample collection device (tube)
  4. Request on the ScoliGEN web portal:
    • The applicant accesses the ScoliGEN purchase website
    • Selects the purchase option and chooses ScoliGEN
    • Fills in the required details: sample code, centre, prescribing doctor, payer details, applicant details, consent forms, etc.
    • Follows the steps to complete the purchase (payment gateway).
  5. The buyer receives a confirmation email.
  6. EpiDisease S.L contacts the buyer within 72 hours to coordinate courier collection.
  7. The patient follows the sampling instructions. The ID label must be affixed to the tube, and the sample collection date indicated.
  8. The laboratory receives the sample for processing and analysis.
  9. Within 21 days of sample receipt, both the applicant and the prescribing physician will receive the result report by password-protected email. The password is provided in a separate email.