Capillary Sequencer, MLPA Platform | Beta Thalassemia mutation screening | HbE (Hemoglobin E) mutation Screening | Sickle Cell Disease Mutation Screening | Hemoglobin D Punjab(HbD) Mutation Study | Hereditary persistence of fetal hemoglobin (HPFH) | Duchenne/Becker Muscular Dystrophy mutation screening (DMD - 26 exons)/Carrier Testing | Spino Cerebral Ataxia (SCA Panel - 1, 2, 3, 6, 7, 10 & 12) | Cystic Fibrosis mutation screening (CFTR - Del 508 ) | Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X) | Huntington Disease (HD) mutation screening | Sperm DNA Fragmentation Semen | HBB Full Gene Analysis (Thalassemia) | Achondroplasia Mutation Analysis (FGFR3 gene G1138A, G1138C) | RB1 gene deletion & duplication detection (Retinoblastoma) |
| NGS Panels | Whole Exome sequencing | Clinical Exome sequencing | Complete Inherited Disease Panel | Non-invasive Prenatal testing (Yes-In-Gene) | Glycogen Storage Disorder Gene Panel | Metabolic Disorder Gene Panel, Muscular Dystrophy Gene Panel | Cystic Fibrosis: CFTR full gene sequence analysis | Common Neurological/neuromuscular diseases Gene Panel | Autism Gene panel | Maturity-Onset Diabetes of the Young (MODY) Gene Panel | Inherited Genetic Disorder gene panel | Hereditary Spastic Paraplegia Gene Panel | Ataxia Gene Panel | Lysosomal Storage Disorder Gene Panel | Haemophilia A & B gene Panel |
| PGD & Carrier testing | PGD (Single gene Disorder)-Baseline | PGD (Single Embryo) with maternal DNA contamination check | Beta Thalassemia | HBE thalassemia | DMD carrier testing | Prenatal testing | Prenatal DMD screening | Prenatal Diagnostic Screening by Karyotyping + FISH for (13, 18, 21, X and Y) |
| MICROARRAY PANELS | Microarray AF/CVS/CB | Microarray AF/CVS + Karyotyping + FISH chromosome 21 | Microarray Peripheral Blood/Cord Blood/Fetal Blood + Karyotyping | Microarray POC | Microarray POC + Karyotyping | Microarray POC+ Couple Karyotying | FISH and KARYOTYPE | Chr 13 | Chr18 | Chr 21 | Chr 13, 18, 21, X, Y | Peripheral Blood Karyotyping (SINGLE)-High resolution | Peripheral Blood Karyotyping (Couple) | Fetal Blood Karyotyping | Cord Blood Karyotyping |
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