Postnatal Array Studies Update: Change of methodology and new test

Effective update from 30/10/2018

We proceed to replace the platform used in 750k postnatal Array study. Therefore, array CGH methodology will be replaced by Array SNPs methodology and we are also creating a new test: 850k Postnatal Array.

Modified and newly created tests have the following characteristics:

3994 - 750K postnatal Array, whole blood

Method: Array (SNPs)

Sample: Whole blood - EDTA

Preanalytical conditions: Refrigerated (store at 4ºC). Clinical information required (including a copy of the family index case report if available) and informed consent..

Delivery time: 20 days

New test created:

7950 - 850K postnatal Array, whole blood

Method: Array (SNPs)

Sample: Whole blood - EDTA

Preanalytical conditions: Refrigerated (store at 4ºC). Clinical information required (including a copy of the family index case report if available) and informed consent.

Delivery time: 20 days

    This change is part of laboratory progress policy, incorporating the following improvements:

ü       They are made with the same platform that contains 850,000 SNPs with 15x redundancy of each SNP and the bioinfomatic analysis
  is adapted according to the selected array resolution.

ü         Detection of microdeletion / microduplication syndromes with enriched coverage for more than 3,200 known genetic diseases.

ü         Detection of regions of homozygosity (ROH) for uniparental isodisomy (UPD).

ü         Detection of triploidy.

ü         High detection sensitivity for low level mosaics.

ü         Improvement of the delivery time: 20 working days.