Facilities:

The Genetics Polyclinic has a waiting room, an administration desk and four offices located on the 2nd floor, which include:

  • Postnatal General Consultations.
  • Reproduction and Prenatal Consultations.
  • Specialist consultations: Ophthalmogenetics, Intellectual Disability and Hereditary Cancer.

Genetics and Molecular Genomics Laboratories Area* (I and II)

Nucleic acid extraction, pre- and post-PCR rooms, electrophoresis room, CGH array, capillary sequencing and massive sequencing.

Cytogenetics Laboratory Area

Cell culture area and sterile chamber, optical and fluorescence microscopy room, image analysis and automatic karyotyping.

Preimplantation Diagnosis and Non-invasive Prenatal Diagnosis Area

Sterile chamber and Fluorescence Microscopy room.

Research and Teaching Division

Biobank and "multipurpose" area: sessions, seminars, multidisciplinary meetings and library.

*Genomics Platform (supporting the IIS-FJD)


Techniques:

The Service has all the techniques commonly found in a Medical Genetics Department.

Recent incorporations include, most notably:

  • Massive Sequencing: molecular diagnostic panels for multiple pathologies.
  • CGH Array: for malformations, maturational delay and pre- and postnatal intellectual disabilities.
  • Non-invasive prenatal diagnosis in maternal blood.
  • Preimplantation Genetic Diagnosis.
  • Digital PCR.

Diagnostics:

The following is carried out, based on the results:

  • Prenatal Genetic Counselling.
  • Reproductive Genetic Counselling.
  • Genetic Counselling in Hereditary and Chromosomal Diseases.
  • Genetic Counselling in Hereditary Cancer.

CONSULTATION

  • Genetics Consultation (1st Consultation).
  • Genetics Consultation Review of results.

POSTNATAL DIAGNOSIS (CYTOGENETIC: chromosomal diseases)

  • Karyotype in peripheral blood.
  • High-resolution karyotype.
  • Molecular CGH Array study (60K, 180K).
  • FISH for numerical and structural abnormalities.

POSTNATAL DIAGNOSIS (MOLECULAR: monogenic diseases)

  • DNA extraction.
  • Single mutation study.
  • Single molecular study.
  • Multiple molecular study.
  • Simple massive sequencing (NGS) (whole gene, gene panels and/or individual clinical exome*).
  • Complex massive sequencing (NGS) (clinical exome* trio (parents and affected individual)).
  • MLPA.
  • NGS analysis/analysis/consultation/report*.
    * Clinical Exome: molecular study by massive sequencing (Next Generation Sequencing - NGS) using a panel of approximately 4,500 genes related to known clinical phenotypes and bioinformatic analysis targeting the possible causes described for genetic pathologies and those of unknown cause.

PRENATAL DIAGNOSIS (cytogenetic and molecular): chromosomal and monogenic diseases).

  • Chromosomal study in Amniotic Fluid (Karyotype, QF-PCR).
  • Chromosomal study in Chorionic Biopsy (Karyotype, QF-PCR).
  • Specific FISH studies (interphase and metaphase).
  • LA CGH Prenatal Array (60K).
  • Uniparental Disomy Screening.
  • Molecular study of identified familial mutation.
  • NGS study for prenatal ultrasound suspicion.

NON-INVASIVE PRENATAL DIAGNOSIS (cytogenetic and molecular): chromosomal and monogenic diseases).

  • Aneuploidy screening in maternal blood.
  • Non-invasive prenatal diagnosis of monogenic diseases in maternal blood.
  • Foetal sex in maternal blood.
  • Foetal Rh in maternal blood.
  • Kell antigen in maternal blood.

STUDY OF PRODUCTS OF CONCEPTION

  • Chromosomal study in products of conception (Karyotype, QF-PCR).
  • Molecular study in products of conception.
  • CGH Array in products of conception.
  • Specific FISH studies (interphase and metaphase).

PRE-IMPLANTATION GENETIC DIAGNOSIS (PGD)

  • Molecular PGD/cycle.
  • Cytogenetic PGD/cycle.
  • Initial PGD cytogenetic informativity study.
  • Initial PGD molecular informativity study.

OTHERS

  • Zygosity study in twins.
  • Sexing of samples (amelogenin, SRY).