Quality

ISO 9001

ACCREDITED BY BUREAU VERITAS IN SPAIN AND PORTUGAL.

Scope

• Providing diagnostic genetic testing services in pre-analytical, analytical and post-analytical stages for the specialities of genomics, non-invasive prenatal testing, molecular diagnostics and NGS sequencing.
• Distribution of kits for genetic analysis

ISO 14001:2015

ACCREDITED BY BUREAU VERITAS IN SPAIN AND PORTUGAL.

Scope

• Providing diagnostic genetic testing services in pre-analytical, analytical and post-analytical stages for the specialities of genomics, non-invasive prenatal testing, molecular diagnostics and NGS sequencing.
• Distribution of kits for genetic analysis

ISO 15189

ACCREDITED BY ENAC (1212/LE2336).

Scope

• Detection of genetic alterations due to DNA copy number variations (CNVs) linked to intellectual disability and multiple malformation syndromes, using Genomic Hybridisation compared to array CGH (postnatal, 60K and 180K).
• Analysis of clinical exome for the study of variants (SNVs, Indels, CNVs) by Next Generation Sequencing (NGS)(*):
• Clinical Trio exome
• Directed clinical exome by phenotype
• Directed clinical exome by gene panels associated to pathologies:
  • Cardiovascular
  • Endocrinological
  • Nephrological
  • Neurological
  • Neuropediatric
  • Ophthalmologic
  • Confirmation techniques: Sanger, array and MLPA.

(*) Flexible Scope: the laboratory has a list of Accredited Tests available to the client as established in ENAC document NT-48.

CAP - PROFICIENCY TESTING/EXTERNAL QUALITY ASSURANCE

CERTIFIED BY COLLEGE OF AMERICAN PATHOLOGISTS

EMQN

CERTIFIED BY THE EUROPEAN MOLECULAR GENETICS QUALITY NETWORK.

Scope

• DNA SEQUENCING - NGS (v Germline)
• DNA SEQUENCING – SANGER
• HBOC (Panel Testing)

GENQA

CERTIFIED BY THE CYTOGENOMIC EXTERNAL QUALITY ASSESSMENT SERVICE.

Scope

• Non-invasive prenatal testing for common aneuploidies.
• Postnatal constitutional CNV detection (array) (previously Constitutional microarray analysis - postnatal sample).
• Prenatal constitutional CNV detection (previously Prenatal microarray).

ISO 9001

ACCREDITED BY BUREAU VERITAS IN SPAIN AND PORTUGAL.

Scope

• Providing diagnostic genetic testing services in pre-analytical, analytical and post-analytical stages for the specialities of genomics, non-invasive prenatal testing, molecular diagnostics and NGS sequencing.
• Distribution of kits for genetic analysis

ISO 14001:2015

ACCREDITED BY BUREAU VERITAS IN SPAIN AND PORTUGAL.

Scope

• Providing diagnostic genetic testing services in pre-analytical, analytical and post-analytical stages for the specialities of genomics, non-invasive prenatal testing, molecular diagnostics and NGS sequencing.
• Distribution of kits for genetic analysis

CAP - PROFICIENCY TESTING/EXTERNAL QUALITY ASSURANCE

CERTIFIED BY THE COLLEGE OF AMERICAN PATHOLOGISTS (8323917-01).

ISO 15189

ACCREDITED BY INSTITUTO NACIONAL DE METROLOGIA, QUALIDADE E TECNOLOGIA - Inmetro (CLC 0009).

Scope

• Array-CGH / Comparative Genomic Hybridization Method. Search for gains (microduplications) and losses (microdeletions) of genetic material / chromosomal segments in the genome.

NBR ISO 9001:2015

CERTIFIED BY FUNDAÇAO VANZOLINI (SQ-22570).

Scope

• Provision of genomic analysis and diagnosis services in the following stages: pre-analytical, analytical and post-analytical in the field of human genetics.