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

 

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