| | 331974 | CADASIL / Lateral meningocele syndrome | NOTCH3 - Exon 11, NOTCH3 - Exon 18 NOTCH3 - Exon 19, NOTCH3 - Exon 3, NOTCH3 - Exon 4 | Sequence analysis | AS, CVS, EDTA blood | 2-3ml | 30 |
| | 3300165 | CALR gene Sequence analysis | CALR Exon 9 | DNA Analysis | Bone marrow (EDTA) | 2-3 ml | 15 |
| | 331972 | Canavan Disease | ASPA - Exon 1, ASPA - Exon 2, ASPA - Exon 3, ASPA - Exon 4, ASPA - Exon 5, ASPA - Exon 6 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 331932 | Cardiovascular risk panel - 12 Mutations | A1298C), ACE - I/D, APOB - R3500Q, ApoE (e2/e3/e4), Factor II protrombin (G20210A), Factor V (G1691A, Factor XIII (V34L), H1299R), HPA-1 (a/b), MTHFR - C677T, PAI-1 (4G/5G), β-Fibrinojen (-455 G-A) | Sequence analysis | EDTA blood | 2-3ml | 15 |
| | 3332015 | Carrier (Cystic fibrosis+SMA+Frajil X) | | Sequence analysis | EDTA blood | 2-3ml | 30 |
| | 331965 | CEBPA gene Sequence analysis | CEBPA Exon 1 | DNA Analysis | FFPE, Fresh Tumor Tissue | | 15 |
| | 331944 | Celiac Disease (HLA-DQ2/DQ8) | HLA DQ2, DQ8 | RT-PCR | AS, CVS, EDTA blood | 2-3ml | 10 |
| | 53331850 | Cerebral Creatine Deficiency Syndrome Type 1 | SLC6A8 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331260 | Cerebral Folate Transport Deficiency | FOLR1 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53331150 | Cerebrotendinous Xanthomatosis | CYP27A1 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 332022 | Charcot-Marie-Tooth (CMT1A) - 1B,2I-J | MPZ - Exon 1, MPZ - Exon 2, MPZ - Exon 3, MPZ - Exon 4, MPZ - Exon 5, MPZ - Exon 6, MPZ - Exon 7 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 331942 | Charcot-Marie-Tooth (CMT1A) - MLPA Analysis | PMP22 - Deletion/Duplication | MLPA Analysis | AS, CVS, EDTA blood | 2-3ml | 15 |
| | 332023 | Charcot-Marie-Tooth (CMT1A) - Sequencing Analysis | PMP22 - .Exon 4, PMP22 - .Exon 5, PMP22 - Exon 2, PMP22 - Exon 3 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 332024 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | GJB1 - Exon 2 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53319900 | CHEK2 gene Sequence analysis | CHEK2 Exon 10, CHEK2 Exon 9 | DNA Analysis | Blood (EDTA) Fresh Tumor Tissue, FFPE | 2-3 ml | 10 |
| | 3300592 | Cherubism | SH3BP2 - Exon 1, SH3BP2 - Exon 10, SH3BP2 - Exon 11, SH3BP2 - Exon 12, SH3BP2 - Exon 13, SH3BP2 - Exon 2, SH3BP2 - Exon 3, SH3BP2 - Exon 4, SH3BP2 - Exon 5, SH3BP2 - Exon 6, SH3BP2 - Exon 7, SH3BP2 - Exon 8, SH3BP2 - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300294 | Chimerism analysis - by FISH | | FISH analysis | Bone marrow (heparin), Peripheral Blood (Heparin) | 2-3 ml | 3 |
| | 3300436 | Chimerism analysis - by PCR analysis (recipient - donor) - 1 sample
After Bone Marrow Transplantation | | DNA Analysis | Blood (EDTA) | 2-3 ml | 10 |
| | 3300435 | Chimerism analysis - by PCR analysis (recipient - donor) - 2 samples
After Bone Marrow Transplantation | | DNA Analysis | Blood (EDTA) and Swab | 2-3 ml | 10 |
| | 330017 | Chromosome analysis - abortion | | Cell Culture | Abortus material | 30-50μg | 21 |