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Genetic Disorders are diseases caused by changes in the genetic makeup of the individual. Though, these disorders are rare, but these disorders need to be diagnosed for knowing the disease, its treatment, prognosis, as well as its prevention in future pregnancies.
At MDRC, we have genetic tests available for numerous diseases along with NGS based panels for various genetic groups to provide an extensive analysis of the genes responsible for particular disease as well as where multifactorial genes are involved. We also provide Clinical Exome Sequencing Panel, which covers all the clinically relevant, disease causing genes for the cases where it is difficult to understand the phenotype and a multifactorial genetic disorder is suspected.
For prevention of the diseases in the future generation we offer, PGD (Pre Implanation Diagnosis), NGS, Microarray based services, High Resolution Karyotyping and FISH analysis on the latest platforms.
| 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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Blood tests can be done through home blood sample collection services that do away with the need to travel to the laboratory. Please fill up the following details for appointment. You will receive an confirmation call from centre regarding appointment details.
Blood tests can be done through home blood sample collection services.
Click "Yes" if you want to avail Home Collection Service or Click "No" to give your same at your nearest Collection Point
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