The ability to isolate and characterize genes has led to a revolutionary increase in our knowledge of genetic disorders and ultimately holds the promise of new insights into pathogenesis and means of treatment. Molecular techniques have provided powerful tools for genetic diagnosis, in many cases allowing precise identification of individuals who carry mutation, using any readily accessible source of tissue for analysis of DNA.
Molecular genetic diagnosis may be done either by direct analysis of gene mutation or by linkage analysis. Direct mutation analysis is possible if the gene responsible for a disorder has been cloned and techniques exist to detect mutations. Genetic linkage analysis is used when polymorphic markers are available that are closely linked to a disease gene but the gene itself has not been cloned or when it is difficult or impossible to detect mutations in the gene.
Molecular Genetic services at CDFD, provide precise diagnosis of various genetic disorders either by direct mutation analysis or by indirect, but reliable, linkage analysis.
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Hemoglobinopathies
- Molecular diagnosis of sickle cell anemia by Reverse dot-blot methods and sequencing.
- Molecular diagnosis of beta thalassemia by ARMS PCR, Reverse Dot Blot methods and sequencing.
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Muscular Disorders
- Molecular Diagnosis of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy for detection of deletions in Dystrophin Gene by Multiplex-PCR.
- Molecular Diagnosis of Spinal Muscular Atrophy by deletion analysis of Survival Motor Neuron (SMN) Gene
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Triplet repeat disorders
- Molecular diagnosis of fragile X syndrome by PCR
- Molecular diagnosis of Huntington disease
- Molecular diagnosis of Frederich's ataxia
- Molecular diagnosis of Myotonic dystrophy Type I
- Molecular diagnosis of Spinocerebellar ataxia (SCA1, SCA2, SCA3, SCA6 and SCA7)
- Molecular diagnosis of Dentatorubropalidolusyian atrophy (DRPLA)
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Genetic thrombotic disorders
- Factor II mutation study
- Factor V Leiden mutation study
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Genetic disorders
- Cystic fibrosis mutation study (4 common mutations)
- Hemochromatosis mutation study (2 common mutations- C282Y, H63D)
- Y chromosome microdeletion study (DAZ gene deletion)
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Prenatal diagnosis facilitiy is available for above listed disorders.
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Sample required:
- 3-5 ml EDTA blood for mutation analysis
- 15-20 ml Amniotic fluid or 20-25 mg Chorionic villi in sterile culture media
Note: Chorionic villi should be preferably sent in tissue culture media (culture media is supplied on demand. Fetal tissue sampling should be done under sterile conditions and samples should be transported in sterile tissue culture media.
Kindly contact us before sending any samples
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