| Factor V Leiden analysis (alone) |
1 week |
| Factor II (Prothrombin G20210A) analysis (alone) |
1 week |
| Single nucleotide variant (SNV) analysis in one individual (thrombophilia-related) |
10 days |
| Thrombophilia-related polymorphism panel analysis |
10 days |
| Y chromosome AZF microdeletion analysis |
2 weeks |
| Rapid detection of fetal aneuploidies by MLPA |
4 working days |
| MEFV gene mutation analysis in Familial Mediterranean Fever (FMF) patients by sequencing |
3 weeks |
| Common MEFV gene mutations analysis in FMF patients by sequencing |
2 weeks |
| Rapid detection of fetal aneuploidies by QF-PCR |
3 working days |
| Cystic Fibrosis (CF) – common mutations (parent/child trio testing) |
2 weeks |
| Cystic Fibrosis (CF) – full gene sequencing |
1 month |
| Beta-thalassemia, Stage I (parent/child trio testing) |
3 weeks |
| Beta-thalassemia, Stage I mutation identification |
3 weeks |
| Beta-thalassemia, Stage II fetal status determination |
2 weeks |
| Alpha-thalassemia, Stage I (parent/child trio testing) |
3 weeks |
| Alpha-thalassemia, Stage I mutation identification |
3 weeks |
| Alpha-thalassemia, Stage II fetal status determination |
2 weeks |
| Alpha-thalassemia (common deletions only, parent/child trio testing) |
3 weeks |
| Spinal Muscular Atrophy (SMA) type 1 & 2, Stage I mutation identification |
2 weeks |
| Spinal Muscular Atrophy (SMA) type 1 & 2, Stage II fetal status determination |
2 weeks |
| SMA, Stage I (parent/child trio testing) |
2 weeks |
| Gene deletion disorders (e.g., Duchenne, Becker muscular dystrophies) |
2 weeks |
| Gene deletion disorders (e.g., Duchenne, Becker) – Stage II fetal sex determination |
1 week |
| Triplet repeat expansion disorders (Huntington’s disease) |
2 weeks |
| Triplet repeat expansion disorders (Fragile X, Huntington’s, Myotonic Dystrophy) |
2 weeks |
| Fragile X triplet repeat mutation analysis |
2 weeks |
| Known familial mutation (for all diseases) |
1 month |
| Friedreich’s Ataxia triplet repeat mutation analysis |
2 weeks |
| Myotonic Dystrophy triplet repeat mutation analysis |
2 weeks |
| Whole Exome Sequencing (WES) 100X |
8–12 weeks |
| Non-Invasive Prenatal Testing (NIPT) for genetic screening |
2 weeks |
| Whole Exome Sequencing (WES) 100X (Rapid) by NGS |
6 weeks |
| Amniotic fluid karyotyping |
2 working weeks |
| Specialized banding methods (other than G-banding) |
10 working days |
| Mosaicism analysis (20–100 cells) |
— |
| Additional karyotyping for each study |
14 working days |
| DNA extraction |
3 working days |
| RNA extraction |
3 working days |
