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Genetic Disorders

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.

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Genetic Disorders

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.

Test Services Offered ( Inherited Genetic Disorders )

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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