Chromosomal analysis for the detection of aneuploidy, translocations or other chromosomal anomalies for diseases including
Cytogenetic Tests

Turner's Syndrome

Klinefelter's Syndrome

Patau's syndrome

Edward's syndrome

Down Syndrome

Fanconi Anemia

Disorders of sexual development

Chronic Myelogenous Leukemia

Primary amenorrhea


Recurrent pregnancy failure

Mental retardation

Molecular Genetic Tests

Mutation analysis for the diseases including

Spinal muscular atrophy

Disorders of sexual development

Duchenne Muscular Dystrophy


Huntington`s Disease

Chronic Myelogenous Leukemia


Biochemical Tests  

Homocysteine estimation Folic acid estimation 
Vitamin B-12 estimation 

Prenatal Tests  

Chorionic vili sampling (8-12 weeks pregnancy) 
Amniocentesis (10-16 weeks pregnancy)

Diagnostic tests for disorders other than those listed can be offered   

Ordinarily cases referred from S.S. hospital, B.H.U. are taken up

Methods used for diagnosis: Human whole blood lymphocyte culture 

Chromosome banding and Karyotyping 

FISH (Chromosomal rearrangements/numerical anomaly) 

Mutation/SNP detection with ARMS-PCR and PCR RFLP 

Exon deletion detection with multiplex 

PCR Gene mutation with sequencing 

Carrier detection with microsatellite typing

Inherited and sporadic and cryptic chromosomal anomalies with Microarray Genomic copy number variation detection with q-PCR

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