Karyotypes

Information on Methodology and Limitations included in REFERENCE VALUES section UPDATE

Test codes: 684, 9605, 2533, 907, 3474, 1016, 4479, 2260, 5446

Effective update from 14/11/2018

Karyotype- tests	UPDATE: Methodology and Limitations
POSTNATAL 684- Karyotype, total blood 9605- Karyotype, culture	Technique: Cell culture stimulated with PHA (phytohemagglutinin). Identification by G bands (ISCN 2016). Limitations: The present result does not include the chromosomal findings interpreted as variants of normality (European Cytogeneticists Association (ECA) http://www.eca.eu/EN/GUIDELINES.html) and is subject to the limitations of this type of studies, such as, among others, the presence of certain situations in mosaic, chromosomal anomalies of small size and discrepancies between tissues. For the interpretation of this type of analysis, it is recommended to attach the relevant clinical data of the patient and/or related relatives. This report should be interpreted within the clinical context of the patient and according to medical criteria.
PRENATAL (FETAL BLOOD) 2533- Karyotype, total cord blood	Technique: Cell culture (48h and 72h) stimulated with PHA (phytohemagglutinin). Identification by G bands (ISCN 2016). Limitations: The present result does not include the chromosomal findings interpreted as variants of normality (European Cytogeneticists Association (ECA) http://www.eca.eu/EN/GUIDELINES.html) and is subject to the limitations of this type of studies, such as, among others, the presence of certain situations in mosaic, chromosomal anomalies of small size, discrepancies between tissues and maternal cell contamination. For the interpretation of this type of analysis, it is recommended to attach the relevant clinical data of the patient and/or related relatives. This report should be interpreted within the clinical context of the patient and according to medical criteria.
PRENATAL 907- Karyotype, amniotic fluid 3474- Karyotype, chorionic villus (culture)	Technique: Cell culture. Analysis of two independent cultures. Identification by G bands (ISCN 2016). Limitations: The present result does not include the chromosomal findings interpreted as variants of normality (European Cytogeneticists Association (ECA) http://www.eca.eu/EN/GUIDELINES.html) and is subject to the limitations of this type of studies, such as, among others, the presence of certain situations in mosaic, chromosomal anomalies of small size, discrepancies between tissues and maternal cell contamination. For the interpretation of this type of analysis, it is recommended to attach the relevant clinical data of the patient and/or related relatives. This report should be interpreted within the clinical context of the patient and according to medical criteria.
ONCOHEMATOLOGY 1016- Karyotype haematological, bone marrow 4479- Karyotype haematological, whole blood	Technique: Cell culture (24 hours without stimulation and/or 72 hours stimulated with TPA (tetradecanoylphorbol acetate) or PHA (phytohaemagglutinin), according to diagnostic orientation). Identification by G bands (ISCN 2016). Limitations: The present result does not include the findings interpreted as variants of normality (European Cytogeneticists Association (ECA) http://www.eca.eu/EN/GUIDELINES.html) and is subject to the limitations of this type of studies. , mainly the absence of growth of pathological cells, the possible non-detection of some mosaics and small structural alterations. For the interpretation of this type of analysis, it is recommended to attach the relevant clinical data of the patient. This report should be interpreted within the clinical context of the patient and according to medical criteria.
TISSUE FROM MISCARRIAGE and TISSUES 2260- Karyotype, tissue 5446- Karyotype, fibroblasts	Technique: Cell culture. Identification by G bands (ISCN 2016). Limitations: The present result does not include the chromosomal findings interpreted as variants of normality (European Cytogeneticists Association (ECA) http://www.eca.eu/EN/GUIDELINES.html) and is subject to the limitations of this type of studies, such as, among others, the presence of certain situations in mosaic, chromosomal anomalies of small size, discrepancies between tissues and maternal cell contamination. For the interpretation of this type of analysis, it is recommended to attach the relevant clinical data of the patient and/or related relatives. This report should be interpreted within the clinical context of the patient and according to medical criteria.