Cytogenetics and Genomics Department (Code 29)
CODE | TYPE OF SERVICE | UOM |
1 | Chromosomal analysis of CVS - Prenatal Diagnosis | /test |
2 | Chromosomal analysis of Amniotic Fluid | /test |
3 | Chromosomal analysis of Fetal Blood | /test |
4 | Chromosomal analysis of Peripheral Blood | /test |
5 | Chromosomal analysis of Skin Biopsy | /test |
6 | Examination and chromosomal analysis of Prod. of Conception (POC) | /test |
7 | Tissue Culture Only - To facilitate other tests | /specimen |
8 | Chromosomal analysis of Peripheral Blood for couples | /test |
20 | Identification/Confirmation/Characterisation of Chromosomal abnormality(ies) by FISH | /test |
21 | Diagnosis of Disease(s) / Syndrome(s) by FISH | /test |
22 | Multiprobe detection centromeric/telomeric | /test |
23 | Pre-implantation Genetic Diagnosis by FISH | /test |
24 | M-FISH | /test |
25 | Sperm FISH for chromosome aneuploidies analysis | /test |
26 | Sperm DNA fragmentation analysis |
/test |
27 | Sperm Oxidative Stress (private only) | /test |
60 | Prenatal diagnosis of Fragile X Syndrome | /family |
61 | Postnatal diagnosis of Fragile X Syndrome/per Individual | /test |
62 | Investigation of abnormalities/syndromes with MLPA or qRT PCR/PCR | /person |
63 | DNA Isolation/storage | /sample |
64 | Detection of Y chromosomal material/ per individual | /sample |
65 | Screening of Y(AZF) chromosomal microdeletions | /sample |
66 | Achondroplasia mutation G1138A analysis | /sample |
67 | Central Diabetes Insipidus | /sample |
68 | Molecular diagnosis of Prader Willi/Angelman syndrome | /test |
69 | Rapid prenatal diagnosis of 13,18,21,X,Y aneuploides (QF-PCR) | /test |
70 | Detection of genomic imbalances with microarray-CGH | /sample |
71 | Pre-implantation Genetic Testing with array CGH or NGS | /sample |
80 | Establish Lymphoblastoid Cell Line | /sample |
81 | Establish Fibroblast Cell Line | /sample |
82 | Thawing-Freezing-Expansion up to 2T-25 Flasks | /sample |
83 | Maintain Two Vials/Sample in N2/year | /sample |
110 | Targeted Panel up to 50 genes | /test |
111 | Clinical Exome Sequencing (Single patient analysis) | /test |
112 | Clinical Exome Sequencing (Trio analysis) | /family trio |
113 | In Silico Panel from Clinical Exome Sequencing (Single Patient analysis) | /test |
114 | In Silico Panel from Clinical Exome Sequencing (Trio analysis) | /family trio |
115 | Whole Exome Sequencing (Single patient analysis) | /test |
116 | Whole Exome Sequencing (Trio analysis) | /family trio |
117 | Open up the CES data after in silico panel | /test |
118 | Open up the WES data after in silico panel | /test |
119 | Sanger DNA sequencing for confirmation of mutation/variant detected by NGS/patient | /test |