TPNI MONOGENIC (Monogenic Non-Invasive Prenatal Test)

• Exclusive coverage in Spain: detects the risk of 202 dominant monogenic diseases associated with 155 genes, a test that no other laboratory currently offers on the Spanish market.
• Advanced clinical evaluation: includes neurological, muscular, skeletal disorders and multisystem syndromes.
• Advanced paternal age: specifically indicated for couples with this risk factor, in addition to the usual maternal age criteria.
• Non-invasive: only requires a maternal blood sample.
• Includes the NIPT Special Cases PLUS: both coverages combined in a single test.

The purchase of this test is a voucher for taking the test at a Laboratorio Echevarne branch.

Fasting is not required.

It is recommended to eat something 30 minutes before the analysis.

Extractions available Monday to Friday (except on the eve of public holiday Fridays).

A medical request is mandatory to perform this test.

Before visiting the laboratory, you must first see a doctor so they can provide you with the prescription and complete the information on this document.

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Your results, clear and accessible: within 18 working days* you will receive a notification by email and SMS.

Interpretation of the results:
• Not detected: no pathogenic variant is identified within the analyzed range. This confirms with 99% certainty that the fetus does not have any of the diseases included in the test, although a false negative cannot be completely ruled out.
• Detected: a pathogenic variant has been identified in one of the analyzed genes. A confirmatory diagnostic test, such as amniocentesis, and evaluation by your gynecologist are required.

Detects the risk of 202 dominant monogenic diseases associated with alterations in 155 genes, including skeletal and neurological disorders.

The test can be performed between weeks 10 and 24 of pregnancy.

No, it is a non-invasive test performed through a simple blood sample from the mother.

It is indicated for women with singleton pregnancies, and especially for couples of advanced paternal age, a relevant genetic risk factor for certain dominant monogenic diseases. It cannot be performed in cases of egg donation, fetal demise, vanishing twin or multiple pregnancy.

It means that no pathogenic variant has been identified within the analyzed range: it confirms with 99% certainty that the fetus does not have any of the diseases included in the test, although, as with any screening test, a false negative cannot be completely ruled out.

If the result indicates "Detected", a pathogenic variant has been identified in one of the analyzed genes. It is necessary to consult your gynecologist and undergo a confirmatory diagnostic test, such as amniocentesis.