Screening Test for Inherited Diseases

The STID is a screening test for carriership of 301 common recessive disorders, including cystic fibrosis (CF), spinal muscle atrophy (SMA), sickle cell, thalassemia, mental retardation, blindness, deafness and many metabolic abnormalities.

The overall frequency of such recessive disorders is 1%, which is higher than the frequency of Down syndrome.

If both partners carry a mutation in the same disorder gene, they have a 25% risk that their offspring will be affected by a recessive disorder, and prenatal diagnosis with chorionic biopsy (CVS) or amniocentesis (AC) can be offered.

STID can be offered to any couple with the desire of having children as recessive diseases exist with healthy couples who are carrier of a mutation in the same gene without knowning it. The frequency of recessive diseases is 1%, which is higher than Down syndrome.

A STID requires saliva in a special saliva kit. The saliva kits are available from GENDIA.

The report with the STID result takes about 1-2 months after arrival of the sample at GENDIA.

The STID is a DNA test with NGS sequencing and deletion-duplication analysis for 301 recessive hereditary diseases. The list of diseases can be viewed by clicking on “List of hereditary diseases”. The STID was developed and is performed by the Invitae laboratory in the USA under accreditation of Clinical Laboratory Improvement Amendments (CLIA).

The results will be mailed both to you and your physician by e-mail. Genetic counselling to discuss the results, implications towards your desire to have children and the organisation for further investigations are offered by GENDIA.

Only the genes involved in 301 frequent genetic diseases are analyzed. Some of the mutations in these 175 genes or mutations in other genes are not detected.

For this reason a normal STID result does not completely exclude that person of being a carrier for one of the analysed diseases.

Your sample and DNA will be used for the STID test only. Your DNA will be kept in the laboratory. The results of the STID test will be kept at GENDIA and in the laboratory.

GENDIA will meet Belgian and EU legislation and regulations concerning the protection and privacy of personal data and the collection, use, processing, saving and storing of patient data.

The results of the STID test will only be reported to you, not to any third party, including family members, insurance companies or physicians, unless requested by you.

As STID is a screening test which can be offered to any couple planning children with the desire of having children, a consultation is not necessary.

When both partners are carrier of a mutation in the same gene, a consultation is highly recommended.

You can make an appointment with GENDIA through info@gendia.net.

There are 2 possibilities:

  1. Consultation in Antwerp:
    You can make an appointment for a consultation at the GENDIA premises in Antwerp through info@gendia.net.
    Please fill out the form on your PC, print it out and bring it to the consultation.
  2. You or your doctor can request a saliva kit from GENDIA and return the kit to GENDIA.
    Please fill in the form on your PC, print it from the website, and send it along with the saliva sample in the saliva kit to:
    GENDIA
    Emiel Vloorsstraat 9
    2020 Antwerp
    Belgium

The price of the STID without consultation is 350 Euro.

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