| SERVICE | PRODUCT | DETERMINANT | TECHNIQUE | PROCEDURE | LIMITATION / RANGE |
Molecular genetics - DNA extraction
| Amniotic fluid; Blood; Buccal swabs; Buffy coat; Dry swabs; OraCollect; Plasma; Saliva; Serum; Urine;
| DNA storage for future analyses; Purified PCR product; Viable DNA; Viable DNA for sequencing;
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Molecular genetics - DNA sequencing
| Amniotic fluid; Blood; Buccal swabs; Extracted DNA; Fluorescent-labelled DNA sequencing reaction product; Hair; Plasmids; Purified PCR product;
| DNA sequence analysis; DNA sequencing reaction purification step; Sequenced DNA; Sequenced DNA by Sanger sequencing; Sequenced DNA utilising massively parallel sequencing technologies;
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Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes
| Blood;
| Breast cancer; Inherited disorders;
| | | |
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Molecular genetics - Non-invasive prenatal (genetic) screening
| Maternal blood;
| Trisomy 13, trisomy 18, trisomy 21;
| | | |
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Molecular genetics - RNA extraction
| Amniotic fluid; Blood; Buccal swabs; Buffy coat; OraCollect; Saliva;
| Purified PCR product; RNA storage for future analyses; Viable RNA; Viable RNA for sequencing;
| | | |
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Molecular genetics - RNA sequencing
| Extracted RNA;
| Sequenced RNA; Sequenced RNA by Sanger sequencing; Sequenced RNA utilising massively parallel sequencing technologies;
| | | |
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Tissue pathology - Immunohistochemical investigation
| Fixed cytological smears; Fresh tissue;
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Tissue pathology - Examination of biopsy material
| Formalin fixed tissue;
| Review and reporting of biopsy material to identify or exclude morphological abnormalities;
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| Formalin fixed tissue; Fresh tissue; Smears;
| Review and reporting of biopsy material to identify or exclude morphological abnormalities;
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Tissue pathology - Gene probes using paraffin in-situ hybridisation techniques (chromogenic/silver)
| Formalin fixed paraffin embedded tissue sections;
| Detection of nucleic acid targets - Various;
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